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Sample records for adult sickle cell

  1. Sleep Disorders in Adult Sickle Cell Patients

    PubMed Central

    Sharma, Sunil; Efird, Jimmy T.; Knupp, Charles; Kadali, Renuka; Liles, Darla; Shiue, Kristin; Boettger, Peter; Quan, Stuart F.

    2015-01-01

    Study Objectives: While sleep apnea has been studied in children with sickle cell disease (SCD), little is known about sleep disorders in adult sickle cell patients. The objective of this study was to evaluate sleep disordered breathing and its polysomnographic characteristics in adult patients with sickle cell disease. Methods: The analysis cohort included 32 consecutive adult SCD patients who underwent a comprehensive sleep evaluation and overnight polysomnography in an accredited sleep center after reporting symptoms suggesting disordered sleep or an Epworth Sleepiness Scale score ≥ 10. Epworth score, sleep parameters, comorbid conditions, and narcotic use were reviewed and compared in patients with and without sleep disordered breathing. SCD complication rates in the two groups also were compared. Results: In adult SCD patients who underwent overnight polysomnography, we report a high prevalence (44%) of sleep disordered breathing. Disease severity was mild to moderate (mean apnea-hypopnea index = 17/h (95% CI: 10–24/h). Concomitant sleep disorders, including insomnia complaints (57%) and delayed sleep-phase syndrome (57%), also were common in this population. In this limited cohort, we did not find increased SCD complications associated with sleep disordered breathing in adult patients with sickle cell disease. Conclusions: A high burden of sleep disordered breathing and other sleep-related complaints were identified in the adult sickle cell population. Our results provide important information on this unique population. Citation: Sharma S, Efird JT, Knupp C, Kadali R, Liles D, Shiue K, Boettger P, Quan SF. Sleep disorders in adult sickle cell patients. J Clin Sleep Med 2015;11(3):219–223. PMID:25515282

  2. [Pulmonary complications in adult sickle cell disease].

    PubMed

    Maître, B; Mekontso-Dessap, A; Habibi, A; Bachir, D; Parent, F; Godeau, B; Galacteros, F

    2011-02-01

    Sickle cell disease is an autosomal genetic condition which represents the most frequent genetic disease in Île-de-France and Caribbean islands. The main clinical manifestations can be divided into infectious disease, hemolytic anemia and vaso-occlusive events. Pulmonary complications represent 20 to 30% of mortality due to sickle cell and can be divided into acute and chronic events. Acute chest syndrome (ACS) is an acute lung injury often preceded by a vaso-occlusive crisis and triggered by different factors including: hypoventilation, pulmonary infectious disease and vascular occlusions. These occlusions can be secondary to fat embolism, thrombosis or sickling. Treatment is mainly supportive combining oxygen supplementation adequate hydration analgesia and sedation. Exchange transfusion may be indicated in severe forms of ACS, characterized by a right ventricular dysfunction and acute respiratory failure. Pulmonary hypertension is the most serious chronic complication. Its frequency is estimated at 6% in adult patients and is more often described in patients with venous ulcers and higher levels of chronic hemolysis. Prognosis is poor with 12.5% of patients dying in the first two years following diagnosis irrespective of the actual pulmonary artery pressure level. There are currently limited data on the effects of any treatment modality. Other respiratory complications such as sleep disorders and nocturnal hypoxemia, infiltrative lung disease and exertional dyspnea are described and should be considered. PMID:21402228

  3. Surgical and Obstetric Outcomes in Adults with Sickle Cell Disease

    PubMed Central

    Adam, Soheir; Jonassaint, Jude; Kruger, Hillary; Kail, Melanie; Orringer, Eugene P.; Eckman, James R.; Ashley-Koch, Allison; Telen, Marilyn J.; De Castro, Laura M.

    2013-01-01

    BACKGROUND Sickle cell disease patients are more likely than the general population to undergo surgery and usually do so at a younger age. Female sickle cell disease patients also have special gynecological and obstetric issues related to their disease. METHODS We collected data through standardized clinical report forms, patient interviews, and medical records from 509 adult sickle cell disease patients. Logistic regression was used to estimate the association between multiple variables and each of the surgery types. We also determined the prevalence and outcomes of pregnancy in 284 women with sickle cell disease in this population. RESULTS Almost 50% of patients aged 18–27 years had had a cholecystectomy. Mean corpuscular hemoglobin, total bilirubin, and lactate dehydrogenase were significantly higher in the postcholecystectomy group; 9.5% of 504 individuals had undergone splenectomy. Hematocrit, body mass index, and red blood cell count were significantly higher in the postsplenectomy group. Hip replacement had been performed in 9.2% of individuals, with the prevalence increasing as early as the fourth decade and continuing to increase through the sixth decade of life. A history of pregnancy was present in 190 women (67%). Of 410 pregnancies, only 53.9% resulted in live births, 16.6% were voluntarily terminated, and 29.5% were complicated by miscarriage, still birth, or ectopic implantation. CONCLUSIONS Sickle cell disease continues to have a strong effect on the mean age for common surgeries and impacts pregnancy outcomes. We conclude that this population has a unique surgical and obstetric history that should be further studied to provide insight into potentially more effective preventive approaches to end-organ damage. PMID:18823864

  4. Sickle cell test

    MedlinePlus

    The sickle cell test looks for the abnormal hemoglobin in the blood that causes the disease sickle cell anemia . ... if a person has abnormal hemoglobin that causes sickle cell disease and sickle cell trait. Hemoglobin is a ...

  5. Sickle cell anemia

    MedlinePlus

    Anemia - sickle cell; Hemoglobin SS disease (Hb SS); Sickle cell disease ... Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells ...

  6. Sickle Cell Information Center

    MedlinePlus

    ... change Sickle Cell News from Around the Web Google Custom Search – sickle cell Our healthcare system abandons ... professor of ... NYT, Nature, Wash Post, SciAm, CNN - Google Custom Search Sickle Cell Anemia News -- ScienceDaily January ...

  7. Sickle cell anemia - resources

    MedlinePlus

    Resources - sickle cell anemia ... The following organizations are good resources for information on sickle cell anemia : American Sickle Cell Anemia Association -- www.ascaa.org National Heart, Blood, and Lung Institute -- www. ...

  8. Sickle Cell Disease Quiz

    MedlinePlus

    ... False: People with sickle cell disease cannot get malaria. A True B False 4. True or False: ... False: People with sickle cell disease cannot get malaria. False People with sickle cell disease can get ...

  9. Managing the acutely ill adult with sickle cell disease.

    PubMed

    Brown, Marvelle

    Sickle cell disease (SCD) is an autosomal recessively inherited condition, affecting the structure of the haemoglobin. SCD is a long-term chronic condition which is manifested by periods of acute painful sickling crisis, known as vaso-occlusive crisis (VOC) and is the cause of 90% of sickle cell-related hospital admissions. SCD is one of the most common genetic conditions worldwide and in the UK there are approximately 12,500 people living with it (Streetly et al,1997; Howard et al, 2008), making it more common than cystic fibrosis, yet there still remains many challenges in managing these patients when they become acutely ill. Lack of awareness and understanding of the illness, concerns regarding addiction and limited attention to the psycho-social implications of the illness, leads to less than effective care for this patient group when they are hospitalized. The aims of this article are to outline the pathophysiology of SCD, identify the causes of VOC and discuss the key principles of nursing management for patients experiencing a VOC. PMID:22306637

  10. Sickle Cell Anemia

    MedlinePlus

    Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don' ... problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one ...

  11. Sickle Cell Disease

    MedlinePlus

    ... sickle cell disease? Sickle cell disease, also called sickle cell anemia, is a hereditary condition (which means it runs ... or blocks blood and oxygen reaching nearby tissues. Sickle cell disease ... the whites of the eyes) Anemia (the decreased ability of the blood to carry ...

  12. Hematopoietic Stem Cell Transplantation in Adult Sickle Cell Disease: Problems and Solutions

    PubMed Central

    Özdoğu, Hakan; Boğa, Can

    2015-01-01

    Sickle cell disease-related organ injuries cannot be prevented despite hydroxyurea use, infection prophylaxis, and supportive therapies. As a consequence, disease-related mortality reaches 14% in adolescents and young adults. Hematopoietic stem cell transplantation is a unique curative therapeutic approach for sickle cell disease. Myeloablative allogeneic hematopoietic stem cell transplantation is curative for children with sickle cell disease. Current data indicate that long-term disease-free survival is about 90% and overall survival about 95% after transplantation. However, it is toxic in adults due to organ injuries. In addition, this curative treatment approach has several limitations, such as difficulties to find donors, transplant-related mortality, graft loss, graft-versus-host disease (GVHD), and infertility. Engraftment effectivity and toxicity for transplantations performed with nonmyeloablative reduced-intensity regimens in adults are being investigated in phase 1/2 trials at many centers. Preliminary data indicate that GVHD could be prevented with transplantations performed using reduced-intensity regimens. It is necessary to develop novel regimens to prevent graft loss and reduce the risk of GVHD. PMID:25912490

  13. Functions of an Adult Sickle Cell Group: Education, Task Orientation, and Support.

    ERIC Educational Resources Information Center

    Butler, Dennis J.; Beltran, Lou R.

    1993-01-01

    Reports on development of adult sickle cell support group and provides description of psychosocial factors most prevalent in patients' lives (anxiety about death, disruption of social support network, disability, dependence on pain medication, conflicts with health care providers). Notes that support group enhanced participants' knowledge about…

  14. Stress, Coping, and Psychological Adjustment of Adults with Sickle Cell Disease.

    ERIC Educational Resources Information Center

    Thompson, Robert J., Jr.; And Others

    1992-01-01

    Examined psychological adjustment to sickle cell disease (SCD) among 109 African-American adults. Good psychological adjustment was associated with lower levels of perceived daily stress and stress regarding SCD illness tasks, higher efficacy expectations, less use of palliative coping methods and negative thinking/passive adherence pain-coping…

  15. Sickle Cell Crisis (Pain Crisis)

    MedlinePlus

    ... How Can I Help a Friend Who Cuts? Sickle Cell Crisis (Pain Crisis) KidsHealth > For Teens > Sickle Cell ... A A A Text Size What Is a Sickle Cell Crisis? Sickle cell disease changes the shape of ...

  16. Sickle Cell Anemia

    MedlinePlus

    Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They ... last as long as normal, round red blood cells. This leads to anemia. The sickle cells also ...

  17. Young Adult Perspectives on a Successful Transition from Pediatric to Adult Care in Sickle Cell Disease

    PubMed Central

    Sobota, Amy E.; Umeh, Emeka; Mack, Jennifer W.

    2016-01-01

    Objective This qualitative study sought to learn from young adults with sickle cell disease (SCD) about their experience leaving pediatric care and perspective on what makes a successful transition. Methods Fifteen young adults with SCD who had left pediatric care within the previous five years participated in focus groups led by a trained moderator. Transcripts were analyzed using grounded theory. Results Four main themes emerged from the analysis: facilitators of transition (meeting the adult provider prior to transfer, knowing what to expect, gradually taking over disease self-management and starting the process early), barriers to transition (negative perceived attitude of adult staff, lack of SCD specific knowledge by both patients and staff, and competing priorities interfering with transition preparation), what young adults wished for in a transition program (opportunities to meet more staff prior to transfer, more information about the differences between pediatric and adult care, learning from a peer who has been through the process, more SCD teaching, and flexibility in transition preparation) and how they define a successful transition (gradually assuming responsibility for self-management of their SCD). Conclusion Our findings present unique opportunities to learn from young adults with SCD about ways to improve current transition programs. PMID:27175364

  18. Longitudinal analysis of pulmonary function in adults with sickle cell disease

    PubMed Central

    Field, Joshua J.; Glassberg, Jeffrey; Gilmore, Annette; Howard, Joanna; Patankar, Sameer; Yan, Yan; Davies, Sally C.; DeBaun, Michael R.; Strunk, Robert C.

    2013-01-01

    Among adults with sickle cell disease (SCD), pulmonary complications are a leading cause of death. Yet, the natural history of lung function in adults with SCD is not well established. We conducted a retrospective cohort study of adults with SCD who had repeated pulmonary function tests performed over 20 years of age. Ninety-two adults were included in this cohort. Rate of decline in FEV1 for men and women with SCD was 49 cc/year (compared with 20–26 cc/year in the general population). Further studies are needed to identify factors which impact the rate of lung function decline in adults with SCD. PMID:18383325

  19. Sickle Cell Trait

    MedlinePlus

    ... About Us Information For... Media Policy Makers Sickle Cell Trait Language: English Español (Spanish) Recommend on Facebook ... the trait on to their children. How Sickle Cell Trait is Inherited If both parents have SCT, ...

  20. Sickle Cell Disease

    MedlinePlus

    ... Overview of CDC’s work. Advancements in Sickle Cell Disease New supplement from the American Journal of Preventive Medicine describes the state of sickle cell disease related care in the United States. Read Supplement ...

  1. Cognitive deficits are associated with unemployment in adults with sickle cell anemia.

    PubMed

    Sanger, Maureen; Jordan, Lori; Pruthi, Sumit; Day, Matthew; Covert, Brittany; Merriweather, Brenda; Rodeghier, Mark; DeBaun, Michael; Kassim, Adetola

    2016-08-01

    An estimated 25-60% of adults with sickle cell disease (SCD) are unemployed. Factors contributing to the high unemployment rate in this population are not well studied. With the known risk of cognitive deficits associated with SCD, we tested the hypothesis that unemployment is related to decrements in intellectual functioning. We conducted a retrospective chart review of 50 adults with sickle cell anemia who completed cognitive testing, including the Wechsler Adult Intelligence Scale-IV, as part of standard care. Employment status was recorded at the time of testing. Medical variables examined as possible risk factors for unemployment included disease phenotype, cerebral infarction, and pain frequency. The mean age of the sample was 30.7 years (range = 19-59); 56% were women. Almost half of the cohort (44%) were unemployed. In a multivariate logistic regression model, lower IQ scores (odds ratio = 0.88; p = .002, 95% confidence interval, CI [0.82, 0.96]) and lower educational attainment (odds ratio = 0.13; p = .012, 95% CI [0.03, 0.65]) were associated with increasing odds of unemployment. The results suggest that cognitive impairment in adults with sickle cell anemia may contribute to the risk of unemployment. Helping these individuals access vocational rehabilitation services may be an important component of multidisciplinary care. PMID:27167865

  2. Sickle cell test

    MedlinePlus

    Sickledex; Hgb S test ... This test is done to tell if a person has abnormal hemoglobin that causes sickle cell disease and sickle ... and no symptoms, or only mild ones. This test does not tell the difference between these two ...

  3. Forced chromatin looping raises fetal hemoglobin in adult sickle cells to higher levels than pharmacologic inducers.

    PubMed

    Breda, Laura; Motta, Irene; Lourenco, Silvia; Gemmo, Chiara; Deng, Wulan; Rupon, Jeremy W; Abdulmalik, Osheiza Y; Manwani, Deepa; Blobel, Gerd A; Rivella, Stefano

    2016-08-25

    Overcoming the silencing of the fetal γ-globin gene has been a long-standing goal in the treatment of sickle cell disease (SCD). The major transcriptional enhancer of the β-globin locus, called the locus control region (LCR), dynamically interacts with the developmental stage-appropriate β-type globin genes via chromatin looping, a process requiring the protein Ldb1. In adult erythroid cells, the LCR can be redirected from the adult β- to the fetal γ-globin promoter by tethering Ldb1 to the human γ-globin promoter with custom-designed zinc finger (ZF) proteins (ZF-Ldb1), leading to reactivation of γ-globin gene expression. To compare this approach to pharmacologic reactivation of fetal hemoglobin (HbF), hematopoietic cells from patients with SCD were treated with a lentivirus expressing the ZF-Ldb1 or with chemical HbF inducers. The HbF increase in cells treated with ZF-Ldb1 was more than double that observed with decitabine and pomalidomide; butyrate had an intermediate effect whereas tranylcypromine and hydroxyurea showed relatively low HbF reactivation. ZF-Ldb1 showed comparatively little toxicity, and reduced sickle hemoglobin (HbS) synthesis as well as sickling of SCD erythroid cells under hypoxic conditions. The efficacy and low cytotoxicity of lentiviral-mediated ZF-Ldb1 gene transfer compared with the drug regimens support its therapeutic potential for the treatment of SCD. PMID:27405777

  4. Hospital utilization patterns and costs for adult sickle cell patients in Illinois.

    PubMed Central

    Woods, K; Karrison, T; Koshy, M; Patel, A; Friedmann, P; Cassel, C

    1997-01-01

    OBJECTIVES: To determine population size, demographic characteristics, hospital utilization patterns, the specialties of physicians providing care, and costs for hospitalized adult sickle cell patients in Illinois. METHODS: A statewide, administrative dataset for the two-year period from january 1992 through December 1993 was analyzed retrospectively. RESULTS: There were 8403 admissions among 1189 individual sickle cell patients for the two-year period. Eighty-five percent of patients resided in the Chicago metropolitan area. The median age of the 1189 patients was 29; two-thirds had Medicaid or Medicare coverage. Emergency departments were the primary source of admissions (85.7%). The most common admitting diagnosis was painful crisis (97.4%), and average length of stay was four days. The median number of admissions per patient was three; most patients (85%) used only one or two hospitals. A small group used more than four hospitals and accounted for 23% of statewide admissions. Primary care physicians cared for most patients, and total hospitalization charges were more than $59 million. CONCLUSIONS: In Illinois the adult sickle cell population is concentrated in major urban centers, primarily the Chicago metropolitan area. These patients accounted for approximately 8400 admissions and more than $59 million in hospital charges during the two-year study period. A small group of patients used multiple hospitals and accounted for more than 23% of total hospitalization charges. This study shows the necessity of and provides a useful framework for developing targeted programs for adult sickle cell patients as well as for training physicians to efficiently provide comprehensive health care services for this population. PMID:9018288

  5. Religious coping and hospital admissions among adults with sickle cell disease

    PubMed Central

    Bediako, Shawn M.; Lattimer, Lakshmi; Haywood, Carlton; Ratanawongsa, Neda; Lanzkron, Sophie; Beach, Mary Catherine

    2011-01-01

    Although a well-established literature implicates religiosity as a central element of the African American experience, little is known about how individuals from this group utilize religion to cope with specific health-related stressors. The present study examined the relation between religious coping and hospital admissions among a cohort of 95 adults with sickle cell disease—a genetic blood disorder that, in the United States, primarily affects people of African ancestry. Multiple regression analyses indicated that positive religious coping uniquely accounted for variance in hospital admissions after adjusting for other demographic and diagnostic variables. Specifically, greater endorsement of positive religious coping was associated with significantly fewer hospital admissions (β = −.29, P<.05). These results indicate a need for further investigation of the roles that religion and spirituality play in adjustment to sickle cell disease and their influence on health care utilization patterns and health outcomes. PMID:20812027

  6. Sexuality and sickle cell anemia

    PubMed Central

    Côbo, Viviane de Almeida; Chapadeiro, Cibele Alves; Ribeiro, João Batista; Moraes-Souza, Helio; Martins, Paulo Roberto Juliano

    2013-01-01

    Background Sickle cell disease, the most common hereditary blood disease in the world, is the result of an atypical hemoglobin called S (Hb S) which, when homozygous (Hb SS) is the cause of sickle cell anemia. Changes of puberty, correlated with a delayed growth spurt, begin late in both male and female sickle cell anemia individuals with repercussions on sexuality and reproduction. The objectives of this exploratory and descriptive study were to characterize the development of sexuality in adults with sickle cell anemia by investigating the patient's perception of their sex life, as well as the information they had and needed on this subject. Methods Twenty male and female sickle cell anemia patients treated at the Hemocentro Regional de Uberaba (UFTM) with ages between 19 and 47 years old were enrolled. A socioeconomic questionnaire and a semi-structured interview on sexuality, reproduction and genetic counseling were applied. Results This study shows that the sickle cell anemia patients lacked information on sexuality especially about the risks of pregnancy and the possible inheritance of the disease by their children. Moreover, the sexual life of the patients was impaired due to pain as well as discrimination and negative feelings experienced in close relationships. Conclusion The health care of sickle cell anemia patients should take into account not only the clinical aspects of the disease, but also psychosocial aspects by providing counseling on sexuality, reproduction and genetics, in order to give this population the possibility of a better quality of life. PMID:23741184

  7. What is Sickle Cell Disease?

    MedlinePlus

    ... from the NHLBI on Twitter. What Is Sickle Cell Disease? Español The term sickle cell disease (SCD) ... common forms of SCD. Some Forms of Sickle Cell Disease Hemoglobin SS Hemoglobin SC Hemoglobin Sβ 0 thalassemia ...

  8. What Causes Sickle Cell Disease?

    MedlinePlus

    ... from the NHLBI on Twitter. What Causes Sickle Cell Disease? Abnormal hemoglobin, called hemoglobin S , causes sickle cell ... that hemoglobin works. ( See Overview. ) How Is Sickle Cell Disease Inherited? When the hemoglobin S gene is inherited ...

  9. Enuresis Is a Common and Persistent Problem Among Children and Young Adults with Sickle Cell Anemia

    PubMed Central

    Field, Joshua J.; Austin, Paul F.; An, Ping; Yan, Yan; DeBaun, Michael R.

    2013-01-01

    OBJECTIVES Enuresis and nocturia are common among children with sickle cell anemia (SCA). The objectives of this study were to describe the prevalence of enuresis and nocturia among children and young adults with SCA and determine the relationship, if any, between these symptoms and SCA-related morbidity. METHODS A prospective infant cohort of African-American children with SCA was previously established from the Cooperative Study for Sickle Cell Disease. Included in this cohort were children with SCA enrolled before 6 months of age for whom questions about enuresis and nocturia had been completed. RESULTS A total of 213 participants were included in this analysis. Sixty-nine individuals (33%) experienced enuresis over the course of the study. No children under 6 years of age were asked about enuresis. Thereafter, enuresis was most prevalent between the ages of 6 and 8 years (42%) and continued to be common in young adults ages 18 to 20 years (9%). Seventy-nine percent of individuals reported a history of nocturia. There was no association between enuresis or nocturia and an increased rate of pain or acute chest syndrome (ACS) episodes. CONCLUSIONS Enuresis and nocturia are common in children with SCA. Among adults with SCA, enuresis and nocturia are more persistent compared with adults in the general population. Enuresis and nocturia are not associated with an increased rate of pain or ACS. PMID:18384865

  10. The five key things you need to know to manage adult patients with sickle cell disease.

    PubMed

    Lanzkron, Sophie; Haywood, Carlton

    2015-01-01

    The lack of a strong evidence base to guide the management of adults with sickle cell disease (SCD) makes it difficult for patients to receive high quality care outside of specialty centers. As there is a dearth of providers with sickle cell expertise, the purpose of this article is to identify some of the key things every provider who manages the care of adults with SCD should know. Managing adults with SCD requires excellent clinical skills, as it can affect every organ and cause life-threatening complications but it also requires a willingness to manage patients who often have psychosocial issues that are complex and impact care and care delivery in very significant ways. We have chosen topics for which there is a limited evidence base but which have significant clinical consequences if left unrecognized or poorly managed. The topics that will be addressed include chronic pain, neurocognitive dysfunction, renal disease, venous thromboembolism, and avoiding the inappropriate use of red cell transfusions. PMID:26637752

  11. Sickle cell disease in childhood: from newborn screening through transition to adult medical care.

    PubMed

    Quinn, Charles T

    2013-12-01

    Sickle cell disease (SCD) is the name for a group of related blood disorders caused by an abnormal hemoglobin molecule that polymerizes on deoxygenation. SCD affects the entire body, and the multisystem pathophysiology begins in infancy. Thanks to prognostic and therapeutic advancements, some forms of SCD-related morbidity are decreasing, such as overt stroke. Almost all children born with SCD in developed nations now live to adulthood, and lifelong multidisciplinary care is necessary. This article provides a broad overview of SCD in childhood, from newborn screening through transition to adult medical care. PMID:24237976

  12. The Effect of Sleep Continuity on Pain in Adults with Sickle Cell Disease

    PubMed Central

    Moscou-Jackson, Gyasi; Finan, Patrick H.; Campbell, Claudia M.; Smyth, Joshua M.; Haythornthwaite, Jennifer A.

    2015-01-01

    This analysis examined the influence of quantifiable parameters of daily sleep continuity, primarily sleep duration and sleep fragmentation, on daily pain in adults with Sickle Cell Disease (SCD). Seventy-five adults with SCD completed baseline psychosocial measures and daily morning (sleep) and evening (pain) diaries over a three-month period. Mixed-effect modeling was used to examine daily between- and within-subjects effects of sleep continuity parameters on pain, as well as the synergistic effect of sleep fragmentation and sleep duration on pain. Results revealed nights of shorter sleep duration and time in bed, increased fragmentation, and less efficient sleep (relative to one’s own mean) were followed by days of greater pain severity. Further, the analgesic benefit of longer sleep duration was attenuated when sleep fragmentation was elevated. These results suggest that both the separate and combined effects of sleep duration and fragmentation should be considered in evaluating pain in adults with SCD. PMID:25842346

  13. Ceftriaxone-resistant Salmonella septicemia and osteomyelitis in sickle cell disease adults.

    PubMed

    Morgan, James S; Laber, Damian A

    2006-06-01

    The majority of data evaluating Salmonella infections in sickle cell anemia (SCD) comes from studies performed in children. We report a SCD adult who presented with ceftriaxone-resistant Salmonella bacteremia. After appropriate initial therapy, persistent back pain prompted evaluation by magnetic resonance imaging of the spine, which revealed osteomyelitis and a psoas abscess. The patient responded to percutaneous drainage and antibiotics. This report summarizes some of the findings of large SCD studies evaluating Salmonella bacteremia and osteomyelitis, focusing on adults. Our case exemplifies the need for antibiotic coverage for Salmonella species in adult SCD patients with septicemia. We argue that imaging studies looking for osteomyelitis should be done routinely in SCD patients with Salmonella bacteremia. PMID:16800421

  14. Characteristics of acute care utilization of a Delaware adult sickle cell disease patient population.

    PubMed

    Anderson, Nina; Bellot, Jennifer; Senu-Oke, Oluseyi; Ballas, Samir K

    2014-02-01

    Sickle cell disease (SCD) is an inherited blood disorder that is chronic in nature and manifests itself through many facets of the patient's life. Comprehensive specialty centers have the potential to reduce health care costs and improve the quality of care for patients who have chronic medical conditions such as heart failure and SCD. The purpose of this practice inquiry was to analyze de-identified data for acute care episodes involving SCD in order to create a detailed picture of acute care utilization for adult patients in Delaware with SCD from 2007 to 2009. Gaining a better understanding of acute care utilization for adults with SCD may provide evidence to improve access to high-quality health care services for this vulnerable patient population in the state of Delaware. PMID:23965046

  15. Extracorporeal membrane oxygenation for the treatment of adult sickle cell acute chest syndrome.

    PubMed

    Parhar, Ken; Parizkova, Barbora; Jones, Nicola; Valchanov, Kamen; Fowles, Jo-Anne; Besser, Martin; Telfer, Paul; Kaya, Banu; Vuylsteke, Alain; Rubino, Antonio

    2016-04-01

    Sickle cell disease (SCD) is a hereditary haemoglobinopathy that results in polymerization of haemoglobin molecules and subsequent vaso-occlusion. A common cause of death in adults is acute chest syndrome (AChS) with resulting hypoxemic respiratory failure.Veno-venous extracorporeal membrane oxygenation (VV-ECMO) has been used successfully in acutely reversible respiratory failure when conventional mechanical ventilation has been unable to adequately oxygenate and ventilate in a lung-protective fashion.We present an adult SCD patient with severe respiratory failure due to AChS, successfully treated with VV-ECMO. We also discuss some of the technical challenges and considerations when using ECMO in the SCD patient. PMID:26130498

  16. Perceived Injustice Predicts Stress and Pain in Adults with Sickle Cell Disease

    PubMed Central

    Molokie, Robert E.; Wilkie, Diana J.; Suarez, Marie L.; Yao, Yingwei

    2014-01-01

    Background Research evidence shows that perceived injustice is a context-based unfair treatment that has negative influence on health outcomes. Aims We examined the contribution of patients’ perceived injustice regarding interactions with healthcare providers to stress and pain in adults with sickle cell disease (SCD). Design This study was a cross-sectional correlational pilot study. Setting Included in the study were adults with SCD who received their care from a university-affiliated Comprehensive Sickle Cell Clinic. Participants/Subjects Participants were 52 adults whose mean age was 34 ±11 years (minimum [min] 20 years, maximum [max] 70 years). Most of the patients were African Americans (n = 48, 92%) and female (n = 41, 79%). Forty-eight patients (92%) reported having a high school diploma or higher. Methods Participants completed the perceived injustice questionnaire, perceived stress questionnaire, and the PAINReportIt, which includes questions to measure pain and demographics. We analyzed the data using the linear regression analyses. Results Perceived injustice from doctors was a significant predictor of perceived stress, p<.001 and pain, p=.002. Perceived injustice from nurses also was a significant predictor of perceived stress, p<.001 and pain, p=.02. The procedural, distributive, and informational domains of perceived injustice attributed to both doctors and nurses consistently predicted patients’ perceived stress, but only the procedural and distributive domains of perceived injustice consistently predicted patients’ pain. Conclusions Findings suggest that perceived injustice was negatively associated with stress and pain in adults with SCD and warrant further investigation in a larger sample. PMID:25439119

  17. Sleep-disordered breathing and nocturnal hypoxemia in young adults with sickle cell disease.

    PubMed

    Whitesell, P L; Owoyemi, O; Oneal, P; Nouraie, M; Klings, E S; Rock, A; Mellman, T A; Berihun, T; Lavella, J; Taylor, R E; Perrine, S P

    2016-06-01

    Sleep-disordered breathing (SDB) is reported in up to 69% of adolescents and children with sickle cell disease (SCD) [1], but data regarding the prevalence of SDB in adults with SCD are limited. In order to obtain a preliminary assessment of the frequency and degree of sleep-related hypoxemia and potential associations with cardiovascular function in adults with SCD, we conducted overnight sleep studies, 6-min walk tests, echocardiograms, and hematologic and chemistry panels, calculated the Pittsburgh sleep quality index (PSQI), and conducted fatigue- and health-related quality-of-life measurement in 20 young adults with SCD visiting a sickle cell clinic for routine care. Sleep apnea, defined as an apnea-hypopnea index (AHI) > 5 events/h, was found in 50% of patients. Traditional clinical indicators, such as obesity, the presence of snoring, and reported sleep complaints, did not reliably differentiate them. The patients with AHI > 5 had higher mean systolic blood pressure (p = 0.03), evidence of impaired left ventricular diastolic function (i.e., increased mitral valve E/A ratio, p = 0.05), a trend toward higher reduction in 6-min walk distances (p = 0.06), and lower health-related quality-of-life scores (p ≤ 0.01). Three of nine patients with more severe anemia (total Hb < 9.0) showed nocturnal hypoxemia in the absence of sleep apnea. As prolonged and frequent hypoxemic episodes likely increase risks for vaso-occlusive, cardiovascular, and neurologic complications of SCD, these results suggest that the prevalence and severity of SDB should be investigated further in studies of larger patient populations. If confirmed, these findings could identify opportunities to prevent or reduce nocturnal hypoxia and improve outcomes. PMID:27544835

  18. A Biopsychosocial-Spiritual Model of Chronic Pain in Adults with Sickle Cell Disease

    PubMed Central

    Taylor, Lou Ella V.; Stotts, Nancy A.; Humphreys, Janice; Treadwell, Marsha J.; Miaskowski, Christine

    2011-01-01

    Chronic pain in adults with sickle cell disease (SCD) is a complex multidimensional experience that includes biological, psychological, sociological, and spiritual factors. To date, three models of pain associated with SCD (i.e., biomedical model; biopsychosocial model for SCD pain; Health Belief Model) are published. The biopsychosocial (BPS) multidimensional approach to chronic pain developed by Turk and Gatchel is a widely used model of chronic pain. However, this model has not been applied to chronic pain associated with SCD. In addition, a spiritual/religious dimension is not included in this model. Because spirituality/religion is central to persons affected by SCD, this dimension needs to be added to any model of chronic pain in adults with SCD. In fact, data from one study suggest that spirituality/religiosity is associated with decreased pain intensity in adults with chronic pain from SCD. A BPS-Spiritual model is proposed for adults with chronic pain from SCD since it embraces the whole person. This model includes the biological, psychological, sociological, and spiritual factors relevant to adults with SCD based on past and current research. The purpose of this paper is to describe an adaptation of Turk and Gatchel’s model of chronic pain for adults with SCD and to summarize research findings that support each component of the revised model (i.e., biological, psychological, sociological, spiritual). The paper concludes with a discussion of implications for the use of this model in research. PMID:24315252

  19. Acute Pain and Depressive Symptoms: Independent Predictors of Insomnia Symptoms among Adults with Sickle Cell Disease.

    PubMed

    Moscou-Jackson, Gyasi; Allen, Jerilyn; Kozachik, Sharon; Smith, Michael T; Budhathoki, Chakra; Haywood, Carlton

    2016-02-01

    No studies to date have systematically investigated insomnia symptoms among adults with sickle cell disease (SCD). The purpose of this study was to (1) describe the prevalence of insomnia symptoms and (2) identify biopsychosocial predictors in community-dwelling adults with SCD. Cross-sectional analysis of baseline data from 263 African American adults with SCD (aged 18 years or older). Measures included the Insomnia Severity Index (ISI), Center for Epidemiologic Studies in Depression scale, Urban Life Stress Scale, Brief Pain Inventory, and a chronic pain item. SCD genotype was extracted from the medical record. A slight majority (55%) of the sample reported clinically significant insomnia symptomatology (ISI ≥ 10), which suggests that insomnia symptoms are prevalent among community-dwelling African American adults with SCD. While insomnia symptoms were associated with a number of biopsychosocial characteristics, depressive symptoms and acute pain were the only independent predictors. Given the high number of participants reporting clinically significant insomnia symptoms, nurses should screen for insomnia symptoms and explore interventions to promote better sleep among adults with SCD, with an emphasis on recommending treatment for pain and depression. In addition, current pain and depression interventions in this population could add insomnia measures and assess the effect of the intervention on insomnia symptomatology as a secondary outcome. PMID:26673730

  20. EMOTIONAL REACTIONS TO PAIN PREDICT PSYCHOLOGICAL DISTRESS IN ADULT PATIENTS WITH SICKLE CELL DISEASE (SCD)

    PubMed Central

    EDWARDS, CHRISTOPHER L.; KILLOUGH, ALVIN; WOOD, MARY; DOYLE, TODD; FELIU, MIRIAM; BARKER, CAMELA S.; UPPAL, PRIYANKA; DeCASTRO, LAURA; WELLINGTON, CHANTÉ; WHITFIELD, KEITH E.; TRAMBADIA, JAY; GUINYARD, DARIENE; MUHAMMAD, MALIK; O’GARO, KEISHA-GAYE N.; MORGAN, KAI; EDWARDS ALESII, LEKISHA Y.; BYRD, GOLDIE S.; McCABE, MELANIE; GOLI, VEERAINDAR; KEYS, ABIGAIL; HILL, LABARRON; COLLINS-McNEIL, JANICE; McDONALD, PATRICIA; SCHMECHEL, DONALD E.; ROBINSON, ELWOOD

    2015-01-01

    Differentiating somatic from emotional influences on the experience of chronic pain has been of interest to clinicians and researchers for many years. Although prior research has not well specified these pathways at the anatomical level, some evidence, both theoretical and empirical, suggest that emotional reactions influence the experience of disease and non-disease-related pains. Other studies suggest that treatments directed at negative emotional responses reduce suffering associated with pain. The current study was conducted to explore the influence of emotional reactions to pain as a predictor of psychological distress in a sample of adult Blacks with Sickle Cell Disease (SCD). Using cross-sectional survey data, we evaluated whether negative emotional reactions to the experience of pain were predictive of psychological distress after controlling for the somatic dimension of pain and age in n = 67 Black patients with Sickle Cell Disease (SCD). Results showed that greater negative emotion associated with pain predicted Somatization (p < .01), Anxiety (p < .05), Phobic Anxiety (p < .05), and Psychoticism (p < .05). Increased negative emotion associated with pain was also predictive of the General Symptoms Index (p < .05) and the Positive Symptoms Total from the SCL-90-R (p < .01). We believe the current study demonstrates that negative emotional reactions to the experience of pain in adults with SCD are predictive of psychological distress above and beyond the influences of age and the direct nociceptive experience. We also believe these data to be valuable in conceptualizing the allocation of treatment resources toward a proactive approach with early identification of patients who are responding poorly for the purpose of potentially reducing later psychopathology. A deeper understanding of the ways that subpopulations cope with chronic disease-related pain may produce models that can be ultimately generalized to the consumers of the majority of healthcare

  1. Latest Sickle Cell Research | NIH MedlinePlus the Magazine

    MedlinePlus

    ... adults. Other studies are evaluating pain perception in animal models of sickle cell disease. In 2010, a study found that neurologically ... iron overload associated with blood transfusions Development of animal models for ... of sickle cell trait 100 Years of Sickle Cell Research Dr. ...

  2. Sickle Cell Disease (For Parents)

    MedlinePlus

    ... States, hemoglobin SS disease (sickle cell anemia) affects mostly African Americans. However, forms of sickle cell disease may happen in people with different ethnic backgrounds, such as those whose ...

  3. Sickle Cell Anemia (For Teens)

    MedlinePlus

    ... Can You Do to Stay Well? en español Anemia falciforme What Is Sickle Cell Disease? Sickle cell ... about 10 to 20 days. This usually causes anemia . Anemia is what happens when the body's number ...

  4. Parental substance abuse, reports of chronic pain and coping in adult patients with sickle cell disease.

    PubMed Central

    Edwards, Christopher; Whitfield, Keith; Sudhakar, Shiv; Pearce, Michele; Byrd, Goldie; Wood, Mary; Feliu, Miriam; Leach-Beale, Brittani; DeCastro, Laura; Whitworth, Elaine; Abrams, Mary; Jonassaint, Jude; Harrison, M. Ojinga; Mathis, Markece; Scott, Lydia; Johnson, Stephanie; Durant, Lauren; Holmes, Anita; Presnell, Katherine; Bennett, Gary; Shelby, Rebecca; Robinson, Elwood

    2006-01-01

    There is increasing interest from a social learning perspective in understanding the role of parental factors on adult health behaviors and health outcomes. Our review revealed no studies, to date, that have evaluated the effects of parental substance abuse on reports of chronic pain and coping in adult patients with sickle cell disease (SCD). We explored the effects of parental substance (alcohol or drug) abuse on reports of the sensory, affective and summary indices of pain in 67 adult patients, mean age 38.9 (13.5), with SCD. We also explored the effects of parental substance abuse on psychopathology associated with pain and active coping. Twenty-four percent of patients reported that their parent(s) abused substances. Patients whose parent(s) were characterized as substance abusers reported greater sensory (p=0.02), affective (p=0.01) and summary (VAS; p=0.02) indices of pain as compared to their counterparts, whose parent(s) were not characterized as substance abusers. Patients did not differ in average age, education or the propensity to respond in a socially acceptable manner. There was a significant trend towards patients who characterized their parents as abusers scoring higher than their counterparts on active coping. We propose a Social Learning Theory to explain the current findings and suggest a need for additional prospective research to simultaneously explore biological (genetic) and social factors that influence the interpretation, experience and reporting of chronic pain in adult patients with chronic disease. PMID:16573309

  5. Nonhematopoietic Nrf2 dominantly impedes adult progression of sickle cell anemia in mice

    PubMed Central

    Ghosh, Samit; Ihunnah, Chibueze A.; Hazra, Rimi; Walker, Aisha L.; Hansen, Jason M.; Archer, David R.; Owusu-Ansah, Amma T.; Ofori-Acquah, Solomon F.

    2016-01-01

    The prevention of organ damage and early death in young adults is a major clinical concern in sickle cell disease (SCD). However, mechanisms that control adult progression of SCD during the transition from adolescence are poorly defined with no cognate prophylaxis. Here, we demonstrate in a longitudinal cohort of homozygous SCD (SS) mice a link between intravascular hemolysis, vascular inflammation, lung injury, and early death. Prophylactic Nrf2 activation in young SS mice stabilized intravascular hemolysis, reversed vascular inflammation, and attenuated lung edema in adulthood. Enhanced Nrf2 activation in endothelial cells in vitro concurred with the dramatic effect on vascular inflammation in the mice. BM chimeric SS mice lacking Nrf2 expression in nonhematopoietic tissues were created to dissect the role of nonerythroid Nrf2 in SCD progression. The SS chimeras developed severe intravascular hemolysis despite having erythroid Nrf2. In addition, they developed premature vascular inflammation and pulmonary edema and died younger than donor littermates with intact nonhematopoietic Nrf2. Our results reveal a dominant protective role for nonhematopoietic Nrf2 against tissue damage in both erythroid and nonerythroid tissues in SCD. Furthermore, we show that prophylactic augmentation of Nrf2-coordinated cytoprotection effectively impedes onset of the severe adult phenotype of SCD in mice. PMID:27158670

  6. Sickle-cell disease.

    PubMed

    Rees, David C; Williams, Thomas N; Gladwin, Mark T

    2010-12-11

    Sickle-cell disease is one of the most common severe monogenic disorders in the world. Haemoglobin polymerisation, leading to erythrocyte rigidity and vaso-occlusion, is central to the pathophysiology of this disease, although the importance of chronic anaemia, haemolysis, and vasculopathy has been established. Clinical management is basic and few treatments have a robust evidence base. One of the main problems of sickle-cell disease in children is the development of cerebrovascular disease and cognitive impairment, and the role of blood transfusion and hydroxycarbamide for prevention of these complications is starting to be understood. Recurrent episodes of vaso-occlusion and inflammation result in progressive damage to most organs, including the brain, kidneys, lungs, bones, and cardiovascular system, which becomes apparent with increasing age. Most people with sickle-cell disease live in Africa, where little is known about this disease; however, we do know that the disorder follows a more severe clinical course in Africa than for the rest of the world and that infectious diseases have a role in causing this increased severity of sickle-cell disease. More work is needed to develop effective treatments that specifically target pathophysiological changes and clinical complications of sickle-cell disease. PMID:21131035

  7. Young adults' pre-existing knowledge of cystic fibrosis and sickle cell diseases: implications for newborn screening.

    PubMed

    Noke, Melissa; Ulph, Fiona

    2014-02-01

    Parental distress following newborn screening is thought to result from inadequate preparation for screening results which can result in maladjustment to screening results after birth. Although prior awareness of relevant genetic disorders such as cystic fibrosis and sickle cell diseases, and preparedness for screening is suggested to enhance information uptake and reduce parental distress, little is known about how young adults' prior knowledge prepares them for screening or affects the assimilation and retention of screening information. Thirty-four young adults, without familial genetic disease or screening experience took part in one of seven focus groups which examined knowledge of cystic fibrosis and sickle cell diseases and ability to assimilate new disease information. Thematic analysis revealed that adults had limited understanding of how cystic fibrosis and sickle cell diseases were inherited or how symptoms manifest, leaving them inadequately prepared for screening results if they do not engage with information interventions. Further, they selectively assimilated new disease information and had difficulty understanding new information in the absence of prior disease knowledge. Young adults' prior disease knowledge should be considered within a newborn screening context and written materials should consider the inclusion of carrier statistics to improve information relevance. PMID:23813300

  8. Recurrent, severe wheezing is associated with morbidity and mortality in adults with sickle cell disease

    PubMed Central

    Cohen, Robyn T.; Madadi, Anusha; Blinder, Morey A.; DeBaun, Michael R.; Strunk, Robert C.; Field, Joshua J.

    2014-01-01

    Prior studies of asthma in children with sickle cell disease (SCD) were based on reports of a doctor-diagnosis of asthma with limited description of asthma features. Doctor-diagnoses of asthma may represent asthma or wheezing unrelated to asthma. Objectives of this study were to determine if asthma characteristics are present in adults with a doctor-diagnosis of asthma and/or wheezing, and to examine the relationship between doctor-diagnosis of asthma, wheezing and SCD morbidity. This was an observational cohort study of 114 adults with SCD who completed respiratory symptom questionnaires and had serum IgE measurements. A subset of 79 participants completed pulmonary function testing. Survival analysis was based on a mean prospective follow-up of 28 months and data were censored at the time of death or loss to follow-up. Adults reporting a doctor-diagnosis of asthma (N = 34) were more likely to have features of asthma including wheeze, eczema, family history of asthma, and an elevated IgE level (all P < 0.05). However, there was no difference in pain or ACS rate, lung function, or risk of death between adults with and without a doctor-diagnosis of asthma. In contrast, adults who reported recurrent, severe episodes of wheezing (N = 34), regardless of asthma, had twice the rates of pain and ACS, decreased lung function and increased risk of death compared with adults without recurrent, severe wheezing. Asthma features were not associated with recurrent, severe wheezing. Our data suggest that wheezing in SCD may occur independently of asthma and is a marker of disease severity. PMID:21809369

  9. Mechanism-driven phase I translational study of trifluoperazine in adults with sickle cell disease.

    PubMed

    Molokie, Robert E; Wilkie, Diana J; Wittert, Harriett; Suarez, Marie L; Yao, Yingwei; Zhao, Zhongsheng; He, Ying; Wang, Zaijie J

    2014-01-15

    Recent evidence of neuropathic pain among adults with sickle cell disease (SCD) reveals a need for adjuvant analgesic treatments for these patients. Ca(2+)/calmodulin protein kinase IIα (CaMKIIα) has a known role in neuropathic pain and trifluoperazine is a potent CaMKIIα inhibitor. The study aim was to determine trifluoperazine's acute effects, primarily on adverse effects and secondarily on pain intensity reduction, in adults with SCD. In a phase I, open-label study of 6 doses of trifluoperazine (0.5, 1, 2, 5, 7.5, 10mg), we obtained 7-hourly and 24-h repeated measures of adverse effects, pain intensity, and supplemental opioid analgesics in 18 adults with SCD (18 hemoglobin SS disease, 15 women, average age 35.8±8.9 years, ranged 23-53) each of whom received a single dose. Data were analyzed with descriptive statistics. Subjects reported moderate to severe sedative effects at 7.5 and 10mg doses, respectively. Eight subjects reported 50% reduction in chronic pain without severe sedation or supplemental opioid analgesics; one of these subjects had dystonia 24.5h after the 10mg dose. The analgesic effect lasted for at least 24h in 3 subjects. Sedation resolved with caffeine and dystonia resolved with diphenhydramine. Adults with SCD experienced minimal adverse effects at doses under 10mg. In this molecular mechanism-driven translational study, trifluoperazine shows promise as an analgesic drug that is worthy of further testing in a randomized controlled study of adults with SCD starting at a dose of 1mg in repeated doses to determine long-term adverse and analgesic effects. PMID:24211787

  10. Sickle cell disease.

    PubMed

    Dean, Erin

    2016-08-01

    Essential facts Sickle cell disease is a group of disorders of red blood cells that is believed to affect up to 15,000 people in the UK. The lifelong condition can have a significant impact on morbidity and mortality. PMID:27484538

  11. Sickle-cell disease in pregnant immigrants

    PubMed Central

    Buckle, A. E. R.

    1968-01-01

    Thirteen pregnancies in nine patients with sickle-cell disease, sickle-cell/haemoglobin C disease and sickle-cell/thalassaemia are reported. There was one maternal death and one stillbirth. Crises occurred in three of the four patients with sickle-cell disease but in only one of the three patients with sickle-cell/haemoglobin C disease. PMID:5705396

  12. Protrusio acetabuli in sickle-cell anemia

    SciTech Connect

    Martinez, S.; Apple, J.S.; Baber, C.; Putman, C.E.; Rosse, W.F.

    1984-04-01

    Of 155 adults with sickle-cell anemia (SS, SC), radiographs of the pelvis or hip demonstrated protrusio acetabuli on at least one side in 14 (3 men and 11 women), as indicated by projection of the acetabular line medial to the ilio-ischial line. All 14 patients had bone changes attributable to sickle-cell anemia, including marrow hyperplasia and osteonecrosis; however, the severity of femoral or acetabular osteonecrosis did not appear directly related to the protrusion. The authors conclude that sickle-cell anemia can predispose to development of protrusio acetabuli.

  13. Cognitive testing of PAINReportIt in adult African Americans with sickle cell disease.

    PubMed

    Jha, Aruna; Suarez, Marie L; Ferrans, Carol E; Molokie, Robert; Kim, Young Ok; Wilkie, Diana J

    2010-01-01

    PAINReportIt, a computerized version of the McGill Pain Questionnaire (Pain. 1975, 1:277-299), presents pain measurement items to responders in serial display screens accompanied by pop-up screens. In this study, we used cognitive interviews to examine further validity of PAINReportIt with 25 African Americans with sickle cell disease. The specific aims were to determine if the questions in the PAINReportIt program were relevant to and understood by African Americans with sickle cell disease and to describe the nature of the pain they experienced. Most study participants were enthusiastic and able to use the tool as intended and appreciated the comprehensiveness, detail, and multidimensionality of its pain data. For some screens, two to six participants' responses suggested some question understanding and interpretation issues, inability to retrieve the requested information, or technical issues. Their responses indicated that screens lacked sufficient specificity for the temporal nature of pain recurrence over a lifetime. The program captured both nociceptive and neuropathic aspects of sickle cell pain and provided detailed information on the location, intensity, quality, and pattern of pain experienced by participants. We recommend that future revisions to the PAINReportIt program address the temporal issues of measuring recurrent pain, resolve technological issues related to pop-ups, and simplify difficult words to better match the typical health literacy levels of patients. These revisions could further enhance the technological aspects, usability, and cultural appropriateness of the tool for African Americans with sickle cell disease. PMID:20431356

  14. In vivo rates of erythrocyte glutathione synthesis in adults with sickle cell disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Despite reports of lower GSH concentration in sickle cell disease (SCD), the in vivo kinetic mechanism(s) responsible for GSH deficiency is unknown. To determine whether suppressed synthesis was responsible for the lower erythrocyte GSH concentration, we used a primed intermittent infusion of [(2)H(...

  15. Adult Sickle Cell Quality-of-Life Measurement Information System (ASCQ-Me)

    PubMed Central

    Treadwell, Marsha J.; Hassell, Kathryn; Levine, Roger; Keller, San

    2016-01-01

    Objectives Research-derived evidence about the impact of sickle cell disease (SCD) on the lives of affected adults is lacking. We conducted formative research to provide the basis for a comprehensive description of how SCD affects the lives of adults, with the goal of developing a SCD-specific quality-of-life measurement system. Methods We conducted a comprehensive literature review of patient-reported outcomes, followed by a series of focus groups and structured individual interviews with adults with SCD (n = 122) and their health care providers (n = 15). Results We reviewed 473 abstracts and included 86 articles in the final review. The literature revealed broad categories of the impact of SCD and its treatment on the lives of adults—pain; emotional distress; social-role functioning; overall quality-of-life; and quality of care. We classified 1213 incidents from the focus groups and interviews into a taxonomy (16 domains) that met the criterion for saturation and was demonstrated to be reliable for the classification of incidents. The final conceptual model was built upon the taxonomy. Discussion Our conceptual model was similar to previous models with the effects of pain predominating, interwoven with emotional distress, quality of care, and stigmatization. We found a broad range of emotions reflected, including positive effects of SCD. Items for the quality-of-life measure were derived from the taxonomy and the conceptual model may be of use in generating hypotheses for clinical research and improving understanding for clinicians of the lived experience of adults with SCD. PMID:24300219

  16. Sickle Cell Unit.

    ERIC Educational Resources Information Center

    Canipe, Stephen L.

    Included in this high school biology unit on sickle cell anemia are the following materials: a synopsis of the history of the discovery and the genetic qualities of the disease; electrophoresis diagrams comparing normal, homozygous and heterozygous conditions of the disease; and biochemical characteristics and population genetics of the disease. A…

  17. Sickle Cell Anemia Bibliography.

    ERIC Educational Resources Information Center

    Christy, Steven C.

    Presents sources for the acquisition of medical, social, psychological, educational, and practical knowledge of sickle cell anemia. The materials listed are designed to help parents, educators, and public service workers. Materials include journal articles, films, brochures, slides, and fact sheets. The usual bibliographic information is given.…

  18. Traumatic Exposure History as a Risk Factor for Chronic Pain in Adult Patients with Sickle Cell Disease.

    PubMed

    Works, Teresa; Jones, Sasia; Grady, James; Andemariam, Biree

    2016-02-01

    This article describes the impact of the integration of a licensed clinical social worker (LCSW) with expertise in behavioral health on identification of risk factors for chronic pain in a cohort of adults with sickle cell disease. Authors conducted a retrospective chart review of all visits to the adult sickle cell center during the first six months of LCSW integration. Demographics, clinical history, and LCSW notes were reviewed. Overall, 71 patients were introduced to the LCSW; 55 percent of them had chronic pain. Patients with chronic pain were older, used opioids daily, took hydroxyurea, reported higher daily pain scores, and underwent more acute care visits and hospitalizations for pain with longer stays. Fifty-eight (81 percent) patients requested concrete social work services such as transportation and housing. Thirty-two patients (55 percent) expressed a desire for mental health counseling while receiving concrete services. Twenty-two (69 percent) of these patients self-disclosed at least one traumatic experience. In fact, a statistically significant relationship between chronic pain and a history of trauma was identified (p = 0.001). Results suggest that sickle cell patients should receive clinical social work services to assess for traumatic exposures that may influence chronic pain. PMID:26946885

  19. Adolescents with Sickle Cell Disease: Self-Efficacy as a Factor in Readiness to Transition from Pediatric to Adult Medical Care

    ERIC Educational Resources Information Center

    Baum, Dabney

    2013-01-01

    Adolescents and young adults with sickle cell disease (SCD) must develop self-efficacy and disease-management skills to transition successfully to adult medical care. This quantitative study explored whether self-efficacy, age, and gender were predictive of transition readiness of adolescents with SCD from pediatric to adult medical care.…

  20. Sleep Quality, Pain and Self-Efficacy among Community-Dwelling Adults with Sickle Cell Disease.

    PubMed

    Adegbola, Maxine

    2015-07-01

    The aim of this paper was to report the findings of a study examining relationships among sleep, pain, self-efficacy, and demographic attributes of community-dwelling adults with sickle cell disease (SCD). Sleep difficulty has been self-reported among adults with chronic pain. Past studies have demonstrated that chronic pain results in sleep difficulties and other complications that threaten effective functioning. Community-dwelling adults with SCD are living longer and need to be evaluated for sleep quality, pain, and self-efficacy. Little is known about whether adults with SCD-related pain have disturbances in sleep and self-efficacy, and if these disturbances are affected by age and/or gender. The purpose of this descriptive, correlational study was to examine the relationships among sleep, pain, self-efficacy, and demographic attributes among community-dwelling adults with SCD, and who use support services of state SCD Associations in the United States. For this secondary data analysis, the study was conducted from June, 2014 to December, 2014 and used a descriptive correlational design to analyze data from a primary study of a convenience sample of 90 subjects with SCD, who were 18 years of age and older. Linear regression was used to compute the relationship between dependent and independent variables. All measures were self-reported. It was found that gender did not significantly affect reports of sleep, pain, or self-efficacy. Self-efficacy accounted for direct relationships with sleep and inverse relationships with pain. Some individuals (16.7%) reported sleeping very well, however, the majority (83.3%) was not sleeping very well, and a greater number of individuals (93.3%) reported having some pain. Among adults with chronic SCD pain, self-efficacy is important in maintaining a stable quality of health. Future assessments, interventions, and research should include comprehensive sleep and pain evaluations, and measures to improve self-efficacy and sleep

  1. Sleep Quality, Pain and Self-Efficacy among Community-Dwelling Adults with Sickle Cell Disease

    PubMed Central

    Adegbola, Maxine

    2016-01-01

    The aim of this paper was to report the findings of a study examining relationships among sleep, pain, self-efficacy, and demographic attributes of community-dwelling adults with sickle cell disease (SCD). Sleep difficulty has been self-reported among adults with chronic pain. Past studies have demonstrated that chronic pain results in sleep difficulties and other complications that threaten effective functioning. Community-dwelling adults with SCD are living longer and need to be evaluated for sleep quality, pain, and self-efficacy. Little is known about whether adults with SCD-related pain have disturbances in sleep and self-efficacy, and if these disturbances are affected by age and/or gender. The purpose of this descriptive, correlational study was to examine the relationships among sleep, pain, self-efficacy, and demographic attributes among community-dwelling adults with SCD, and who use support services of state SCD Associations in the United States. For this secondary data analysis, the study was conducted from June, 2014 to December, 2014 and used a descriptive correlational design to analyze data from a primary study of a convenience sample of 90 subjects with SCD, who were 18 years of age and older. Linear regression was used to compute the relationship between dependent and independent variables. All measures were self-reported. It was found that gender did not significantly affect reports of sleep, pain, or self-efficacy. Self-efficacy accounted for direct relationships with sleep and inverse relationships with pain. Some individuals (16.7%) reported sleeping very well, however, the majority (83.3%) was not sleeping very well, and a greater number of individuals (93.3%) reported having some pain. Among adults with chronic SCD pain, self-efficacy is important in maintaining a stable quality of health. Future assessments, interventions, and research should include comprehensive sleep and pain evaluations, and measures to improve self-efficacy and sleep

  2. Endothelin receptor antagonists for pulmonary hypertension in adult patients with sickle cell disease.

    PubMed

    Minniti, Caterina P; Machado, Roberto F; Coles, Wynona A; Sachdev, Vandana; Gladwin, Mark T; Kato, Gregory J

    2009-12-01

    Pulmonary Hypertension is a serious complication of sickle cell disease (SCD), with high morbidity and mortality. Endothelin (ET)-1, a potent vasoconstrictor elevated in SCD, acts through the ET receptors (ETR), ETR-A and ETR-B. Bosentan and ambrisentan are ETR blockers used in primary pulmonary hypertension. We report on the use of ETR blocking agents in a cohort of 14 high-risk SCD adult patients with pulmonary hypertension. Patients underwent right heart catheterization, 6-min walk test, echocardiogram, physical examination and blood work-up before starting ETR blockers. Eight patients received ETR blockers as initial therapy; six patients were already taking sildenafil. Over more than 6 months of therapy, sequential measurements of 6-min walk distance increased significantly (baseline 357 +/- 22 to 398 +/- 18 m at 5-6 months, P < 0.05). Downward trends were observed for amino-terminal brain natriuretic peptide and tricuspid regurgitant velocity. Pulmonary artery mean pressures decreased in three patients that had repeat right heart catheterization (44-38 mmHg). Adverse events were: increased serum alanine aminotransferase (2), peripheral oedema (4), rash (1), headache (3), decreased haemoglobin (2). Therapy was stopped in two patients who were switched then to the other ETR blocker agent. These data suggest preliminary evidence for the benefit of bosentan and ambrisentan in pulmonary hypertension in SCD. PMID:19775299

  3. Patient Controlled Analgesia for Adults with Sickle Cell Disease Awaiting Admission from the Emergency Department

    PubMed Central

    Santos, Josue; Jones, Sasia; Wakefield, Daniel; Grady, James; Andemariam, Biree

    2016-01-01

    Background. A treatment algorithm for sickle cell disease (SCD) pain in adults presenting to a single emergency department (ED) was developed prioritizing initiation of patient controlled analgesia (PCA) for patients awaiting hospitalization. Objectives. Evaluate the proportion of ED visits in which PCA was started in the ED. Methods. A two-year retrospective chart review of consecutive SCD pain ED visits was undertaken. Data abstracted included PCA initiation, low versus high utilizer status, pain scores, bolus opioid number, treatment times, and length of hospitalization. Results. 258 visits resulted in hospitalization. PCA was initiated in 230 (89%) visits of which 157 (68%) were initiated in the ED. Time to PCA initiation was longer when PCA was begun after hospitalization versus in the ED (8.6 versus 4.5 hours, p < 0.001). ED PCA initiation was associated with fewer opioid boluses following decision to admit and less time without analgesic treatment (all p < 0.05). Mean pain intensity (MPI) reduction did not differ between groups. Among visits where PCA was begun in the ED, low utilizers demonstrated greater MPI reduction than high utilizers (2.8 versus 2.0, p = 0.04). Conclusions. ED PCA initiation for SCD-related pain is possible and associated with more timely analgesic delivery. PMID:27445606

  4. Frequency distribution of sickle cell anemia, sickle cell trait and sickle/beta-thalassemia among anemic patients in Saudi Arabia

    PubMed Central

    Elsayid, Mohieldin; Al-Shehri, Mohammed Jahman; Alkulaibi, Yasser Abdullah; Alanazi, Abdullah; Qureshi, Shoeb

    2015-01-01

    Background: Notwithstanding, the growing incidence of sickle cell hemoglobinopathies (SCH) such as sickle cell anemia (SCA) or sickle cell disease, sickle/beta-thalassemia; the exact prevalence remains obscure in Saudi Arabia. Hence, this study is an attempt to determine the frequency of SCA and sickle cell trait (SCT) among all anemic patients with SCH treated at the King Abdul-Aziz Medical City (KAMC), Riyadh, Saudi Arabia. Furthermore, the hemoglobin (Hb) S and other Hb patterns (Hb AS and Hb F) were also estimated in SCA and SCT patients. Materials and Methods: Results of Hb capillary electrophoresis performed on all patients with SCH from January 2011 to December 2013 were evaluated retrospectively. Results: Of a total of 3332 patient data analyzed, 307 were anemic patients (58% males and 42% females) with SCH. The sickling test showed all the patients to be positive. Hb electrophoresis revealed the incidence of 96.7%, 3.3%, and 0% of the patients suffered from SCA, SCT and sickle/beta-thalassemia, respectively. Patients with SCA had a higher level of Hb F and showed no crisis when compared with other SCA patients who had lower or no Hb F levels. Conclusion: SCA is relatively frequent among males (56.4%) than females out of all patients with SCH. The SCA incidence was more common (48.5%) among children, frequency of SCT among adult age group was 1.6%, while sickle/beta-thalassemia was 0%. PMID:26604627

  5. Red blood cells, sickle cell (image)

    MedlinePlus

    Sickle cell anemia is an inherited blood disease in which the red blood cells produce abnormal pigment (hemoglobin). ... abnormal hemoglobin causes deformity of the red blood cells into crescent or sickle-shapes, as seen in this photomicrograph.

  6. Red blood cells, sickle cells (image)

    MedlinePlus

    These crescent or sickle-shaped red blood cells (RBCs) are present with Sickle cell anemia, and stand out clearly against the normal round RBCs. These abnormally shaped cells may become entangled and ...

  7. Red blood cells, sickle cell (image)

    MedlinePlus

    Sickle cell anemia is an inherited blood disease in which the red blood cells produce abnormal pigment (hemoglobin). The abnormal hemoglobin causes deformity of the red blood cells into crescent or sickle-shapes, as seen in this photomicrograph.

  8. Red blood cells, multiple sickle cells (image)

    MedlinePlus

    Sickle cell anemia is an inherited disorder in which abnormal hemoglobin (the red pigment inside red blood cells) is produced. The abnormal hemoglobin causes red blood cells to assume a sickle shape, like the ones seen in this photomicrograph.

  9. Sickle cell retinopathy.

    PubMed

    Graham, S J; Gartner, S A

    1980-06-01

    Ten percent of North American blacks have one of four forms of sickle cell disease. Eight to nine percent have sickle cell trait (AS disease); One-half to one percent have SThal disease; Four-tenths percent have SS disease; One-tenth to three-tenths percent have SC disease. The SC and SThal forms present with the most frequent and severe ocular manifestations, including proliferative and non-proliferative retinopathies. Approximately 1% of the black population is at risk for serious ocular complications. The purpose of this paper is to familiarize the reader with the retinal signs, transmissibility, and pathophysiology of a high incidence disease. Early recognition and referral results in prolonged visual function if proper therapy is undertaken. A brief overview of ocular therapies is included. PMID:7400511

  10. Factors associated with survival in a contemporary adult sickle cell disease cohort.

    PubMed

    Elmariah, Hany; Garrett, Melanie E; De Castro, Laura M; Jonassaint, Jude C; Ataga, Kenneth I; Eckman, James R; Ashley-Koch, Allison E; Telen, Marilyn J

    2014-05-01

    In this study, the relationship of clinical differences among patients with sickle cell disease (SCD) was examined to understand the major contributors to early mortality in a contemporary cohort. Survival data were obtained for 542 adult subjects who were enrolled since 2002 at three university hospitals in the southeast United States. Subjects were followed up for a median of 9.3 years. At enrollment, clinical parameters were collected, including hemoglobin (Hb) genotype, baseline laboratory values, comorbidities, and medication usage. Levels of soluble adhesion molecules were measured for a subset of 87 subjects. The relationship of clinical characteristics to survival was determined using regression analysis. Median age at enrollment was 32 years. Median survival was 61 years for all subjects. Median survival for Hb SS and Sβ(0) was 58 years and for Hb SC and Sβ(+) was 66 years. Elevated white blood count, lower estimated glomerular filtration rate, proteinuria, frequency of pain crises, pulmonary hypertension, cerebrovascular events, seizures, stroke, sVCAM-1, and short-acting narcotics use were significantly associated with decreased survival. Forty-two percent of subjects were on hydroxyurea therapy, which was not associated with survival. SCD continues to reduce life expectancy for affected individuals, particularly those with Hb Sβ(0) and SS. Not only were comorbidities individually associated with decreased survival but also an additive effect was observed, thus, those with a greater number of negative endpoints had worse survival (P < 0.0001). The association of higher sVCAM-1 levels with decreased survival suggests that targeted therapies to reduce endothelial damage and inflammation may also be beneficial. PMID:24478166

  11. Five years of experience with hydroxyurea in children and young adults with sickle cell disease.

    PubMed

    Ferster, A; Tahriri, P; Vermylen, C; Sturbois, G; Corazza, F; Fondu, P; Devalck, C; Dresse, M F; Feremans, W; Hunninck, K; Toppet, M; Philippet, P; Van Geet, C; Sariban, E

    2001-06-01

    The short-term beneficial effect of hydroxyurea (HU) in sickle cell disease (SCD) has been proven by randomized studies in children and adults. The Belgian registry of HU-treated SCD patients was created to evaluate its long-term efficacy and toxicity. The median follow-up of the 93 patients registered is 3.5 years; clinical and laboratory data have been obtained for 82 patients at 1 year, 61 at 2 years, 44 at 3 years, 33 at 4 years, and 22 after 5 years. On HU, the number of hospitalizations and days hospitalized dropped significantly. Analysis of the 22 patients with a minimum of 5 years of follow-up confirm a significant difference in the number of hospitalizations (P =.0002) and days in the hospital (P <.01), throughout the treatment when compared to prior to HU therapy. The probabilities of not experiencing any event or any vaso-occlusive crisis requiring hospitalization during the 5 years of treatment were, respectively, 47% and 55%. On HU, the rate per 100 patient-years of severe events was estimated to be 3.5% for acute chest syndrome, 1.2% for aplastic crisis, 0.4% for splenic sequestration; it was 0% for the 9 patients with a history of stroke or transient ischemic attack followed for an average of 4 years. No important adverse effect occurred. Long-term chronic treatment with HU for patients with SCD appears feasible, effective, and devoid of any major toxicity; in patients with a history of stroke, HU may be a valid alternative to chronic transfusion support. (Blood. 2001;97:3628-3632) PMID:11369660

  12. Sickle cell considerations in athletes.

    PubMed

    Eichner, E Randy

    2011-07-01

    This article highlights the exertional-sickling collapse syndrome in athletes with sickle cell trait (SCT). It covers all aspects of this syndrome, including pathophysiology, new research on microcirculatory changes, clinical features, differential diagnosis, prevention, and treatment. Also covered in this article are other clinical concerns for athletes with SCT, including lumbar myonecrosis, splenic infarction, hematuria, hyposthenuria, and venous thromboembolism. The final section offers practical points on athletes with sickling hemoglobinopathies more serious than SCT. PMID:21658547

  13. Facts about Sickle Cell Disease

    MedlinePlus

    ... one from each parent. This is commonly called sickle cell anemia and is usually the most severe form of ... who have this form of SCD inherit one sickle cell gene (“S”) from one parent and one gene for beta thalassemia, another type of anemia, from the other parent. There are two types ...

  14. [Sickle cell pathophysiology].

    PubMed

    Renaudier, P

    2014-11-01

    Sickle cell disease is associated with the inversion of one base pair (A = T → A = T). The sixth codon of the beta globin chain [GAA] becomes [GTA]. Accordingly, the sixth amino acid (glutamic acid, negatively charged) is replaced by valine, hydrophobic. A hydrophobic site is present on the outside of the HbS β chain. This incurs a hydrophobic bond with the phenylalanine in position 85 and leucine in position 88, in which outsource deoxy haemoglobin. Therefore, it creates a HbS polymer that deforms the red blood cell and causes vaso-occlusive crisis in the capillary venous pole. In this conventional design, the roles are added to the nitrogen monoxide and vascular tone, the increase in adhesion of red blood cells to the endothelium damage caused by red blood cells HbS: dehydration, senescence, formation of microvesicles. If these advances in our understanding of the pathophysiology have not yet had a clinical application, they will happen one day. It is therefore particularly important to pursue in France the network structure of sickle cell disease with a view to set up multicenter trials when the day comes. PMID:25282490

  15. The adolescent with sickle cell disease.

    PubMed

    Majumdar, Suvankar

    2013-04-01

    Most children and adolescents with sickle cell disease are managed by primary care physicians. Sickle cell disease is often considered to be a disorder that is only associated with treatment of acute pain, although it has become evident over the years that the condition is associated with numerous organ complications, many of which begin during adolescence. The purpose of this article is to highlight the various organ complications that may occur in sickle cell disease, with a particular emphasis on adolescence, and how best to detect and screen for such complications. Furthermore, as life expectancy continues to improve, transition to adult health care for patients has become a critical issue. The psychological effect on the adolescent with this chronic illness, as well as a brief description of the transitional processes to adult-centered care, are discussed. PMID:23705531

  16. USING LIVED EXPERIENCES OF ADULTS TO UNDERSTAND CHRONIC PAIN: SICKLE CELL DISEASE, AN EXEMPLAR

    PubMed Central

    ADEGBOLA, MAXINE A.

    2012-01-01

    Healthcare provision pertaining to painful, chronic conditions can best be optimized by developing positive healthcare provider (HCP)-patient relationships that minimize fragmented care. Nurses, with their holistic, humanistic approach provide a multidimensional focus that fosters individualized and effective outcomes for chronic events. The chronic pain phenotype is subjective, difficult to assess, define and effectively manage. Individuals with one such chronic syndrome, sickle cell disease (SCD), are living longer with pain that is poorly defined and inadequately managed. In addition to using quantitative assessment, clinicians and researchers must use substantive qualitative inquiry to understand the pain from the individual's perspective, define, and appropriately manage the pain. Combined quantitative and qualitative inquiry can help clinicians and researchers gain insights into pain experiences. This manuscript summarizes the importance of including a narrative (qualitative) inquiry, to offer a holistic, comprehensive and humanistic approach to understanding chronic pain from the individual's perspective and subsequently positively impacting care delivery. All nurses in the academy-educators, clinicians and researches need to include a qualitative approach to care delivery, investigation and evaluation of the phenomenon pain, and intentionally demonstrate care. The experiences of individuals with chronic sickle cell disease (SCD) pain are used as an exemplar. PMID:22816067

  17. Predictors of renal function progression in adults with homozygous sickle cell disease.

    PubMed

    Asnani, Monika; Serjeant, Graham; Royal-Thomas, Tamika; Reid, Marvin

    2016-05-01

    Longitudinal studies of renal function may improve understanding of the pathophysiological mechanisms underlying sickle cell disease (SCD) nephropathy and may identify possible biological and clinical markers of renal function determined over time. Data from the Jamaica Sickle Cell Cohort Study (JSCCS) were extracted and the glomerular filtration rate (GFR) was estimated using the Chronic Kidney Disease Epidemiological and the SCD specific JSCCS-GFR equations from all adulthood serum creatinine measurements in homozygous SS patients. The other dataset consisted of measured GFR at two times about 13 years apart. Linear mixed model (LMM) regression analyses were conducted to determine predictors of GFR and serum creatinine over time. 191 individuals with SS disease had 867 GFR estimates available. Serum creatinine significantly increased from baseline whereas estimated GFR showed a significant decline. Serum creatinine showed positive association with increasing age, male gender, body mass index and sodium levels. Haemoglobin was a significant negative predictor of estimated GFR in age- and gender-adjusted models. A total of 24 females and 17 males had repeat measurements of their GFR. The mean annual decline in GFR was -3·2 ± 2·83 ml/min/1·73 m(2) . Haemoglobin was a significant positive predictor whereas serum creatinine, systolic blood pressure and urinary albumin: creatinine ratio were negative predictors of GFR. PMID:27018388

  18. Cognitive Testing of PAINReportIt® in Adult African Americans with Sickle Cell Disease

    PubMed Central

    Jha, Aruna; Suarez, Marie L.; Ferrans, Carol E.; Molokie, Robert; Kim, Young Ok; Wilkie, Diana J.

    2013-01-01

    PAINReportIt,® a computerized version of Melzack’s (© 1970) McGill Pain Questionnaire, presents pain measurement items to responders in serial display screens accompanied by pop-up screens. In this study, we used cognitive interviews to examine further validity of PAINReportIt® with 25 African Americans with sickle cell disease. The specific aims were to determine if the questions in the PAINReportIt® program were relevant to and understood by African Americans with SCD and to describe the nature of the pain they experienced. Most study participants were enthusiastic and able to use the tool as intended, appreciated the comprehensiveness, detail, and multidimensionality of its pain data. For some screens, two to six participants’ responses suggested some question understanding and interpretation issues, inability to retrieve the requested information, or technical issues. Their responses indicated that screens lacked sufficient specificity for the temporal nature of pain recurrent over a lifetime. The program captured both nociceptive and neuropathic aspects of sickle cell pain, and provided detailed information on the location, intensity, quality and pattern of pain experienced by participants. We recommend that future revisions to the PAINReportIt® program address the temporal issues of measuring recurrent pain, resolve technological issues related to pop-ups, and simplify difficult words to better match the typical health literacy levels of patients. These revisions could further enhance the technological aspects, usability, and cultural appropriateness of the tool for African Americans with SCD. PMID:20431356

  19. Discordance between self-report and genetic confirmation of sickle cell disease status in African-American adults

    PubMed Central

    Bean, Christopher J.; Hooper, W. Craig; Ellingsen, Dorothy; DeBaun, Michael R.; Sonderman, Jennifer; Blot, William J.

    2015-01-01

    Background Sickle cell disease (SCD) is an autosomal recessive genetic disorder, with persons heterozygous for the mutation said to have the sickle cell trait (SCT). Serious adverse effects are mainly limited to those with SCD, but the distinction between disease and trait is not always clear to the general population. We sought to determine accuracy of self-reported SCD when compared to genetic confirmation. Methods From stratified random samples of Southern Community Cohort Study participants, we sequenced the β-globin gene in 51 individuals reporting SCD and 75 individuals reporting no SCD. Results The median age of the group selected was 53 (range 40–69) with 29% male. Only 5.9% of the 51 individuals reporting SCD were confirmed by sequencing, with the remaining 62.7% having SCT, 5.9% having hemoglobin C trait, and 25.5% having neither SCD nor trait. Sequencing results of the 75 individuals reporting no SCD by contrast were 100% concordant with self-report. Conclusions Misreporting of SCD is common in an older adult population, with most persons reporting SCD in this study being carriers of the trait and a sizeable minority completely unaffected. The results from this pilot survey support the need for increased efforts to raise community awareness and knowledge of SCD. PMID:24685557

  20. Sickle cell disease and posterior reversible leukoencephalopathy.

    PubMed

    Geevasinga, Nimeshan; Cole, Catherine; Herkes, Geoffrey K; Barnett, Yael; Lin, Jamie; Needham, Merrilee

    2014-08-01

    Sickle cell disease can present with neurological manifestations. One such presentation is with posterior reversible leukoencephalopathy also known as reversible posterior leukoencephalopathy. The condition is classically described as reversible over time; it commonly presents with oedematous changes involving the white matter of the occipital and parietal regions. Only a few patients with the association between sickle cell disease and posterior reversible leukoencephalopathy have been described in the adult literature. We present two patients from our institutions to emphasise the association between the two conditions and summarise the published cases in the literature. PMID:24656986

  1. Do You Know about Sickle Cell Anemia? (For Kids)

    MedlinePlus

    ... Lunch Recipes Do You Know About Sickle Cell Anemia? KidsHealth > For Kids > Do You Know About Sickle ... stay in the hospital. What Causes Sickle Cell Anemia? Sickle cell anemia is an inherited (say: in- ...

  2. Learning about Sickle Cell Disease

    MedlinePlus

    ... syndrome and need fewer blood transfusions. Bone Marrow Transplantation: The Only Cure: Currently the only cure for sickle cell disease is bone marrow transplantation. In this procedure a sick patient is transplanted ...

  3. Megalophallus in sickle cell disease.

    PubMed

    Datta, N S

    1977-05-01

    A case of megalophallus in sickle cell disease with repeated episodes of priapism is reported. A possible cause of penile hypertrophy with preservation of potency is discussed. Corpus cavernography was helpful in the diagnostic evaluation. PMID:859210

  4. HCV in sickle cell disease.

    PubMed Central

    Hassan, Mohamed; Hasan, Syed; Castro, Oswaldo; Giday, Samuel; Banks, Alpha; Smoot, Duane

    2003-01-01

    The sickle cell gene is common in the U.S. In fact 8% of African Americans are healthy carriers of the sickle cell trait (HbAS). People who are homozygous (HbSS) have severe disease. They have life-long anemia, chronic hemolysis, and also have at times hematological crises, which can worsen the anemia. Many patients require chronic transfusions and as a result, substantial proportions of sickle cell patients are at high risk for infection with blood-borne diseases-such as Hepatitis C Virus infection (HCV). The HCV antibody positivity is directly related to the number of transfusions given, and on average the prevalence rate in transfused patients is more than 10%. It is known that the combination of iron overload and HCV can lead to a more rapidly progressive liver disease. The treatment of HCV in sickle cell patients poses a challenge to clinicians. A novel approach described by some is the pre-treatment of these patients with hydroxyurea to increase the fetal hemoglobin, therefore decreasing the severity of Ribavirin-related hemolysis. Treatment with Peg-interferon alone has not been used to treat HCV in sickle cell patients, but in the setting of controlled clinical trials it would be feasible. This review explores the impact of HCV in sickle cell patients and the possible therapeutic options available to them. PMID:14527056

  5. Knowledge and awareness of personal sickle cell genotype among parents of children with sickle cell disease in southeast Nigeria.

    PubMed

    Ezenwosu, O U; Chukwu, B F; Ikefuna, A N; Hunt, A T; Keane, J; Emodi, I J; Ezeanolue, E E

    2015-10-01

    Sickle cell trait (SCT; HbAS), the heterozygous state for the sickle cell allele of the beta globin gene, is carried by as many as 100 million individuals worldwide. Nigeria has the highest prevalence of SCT, impacting an estimated 25 % of adult population. This study was designed to assess timing of awareness, knowledge of SCT status and preferred method of education among parents of children with sickle cell disease (SCD). We conducted a cross-sectional survey of parents of children with SCD from June 2013-March 2014. Participants completed a 20-item questionnaire to assess (1) awareness of personal sickle cell genotype, (2) timing of awareness of personal sickle cell genotype, and (3) knowledge of SCT. One hundred and fifty-five participants completed the survey. Seventy-eight percent were females, and 87 % (135/155) were aware of their own sickle cell genotype. Timing of awareness varied as follows: following birth of a child with sickle cell disease (45 %); during marriage (21.5 %); school admission (9.6 %); during pregnancy (9.6 %); and other times (14 %). Approximately 35.5 % of participants thought that sickle cell trait was a mild form of sickle cell disease. Radio (43.9 %), informational community meetings (27.7 %), and television (21.9 %) were identified by participants as the most effective method of increasing sickle cell trait awareness. Innovative approaches are needed to increase the proportion of individuals who are aware of their own sickle cell genotype prior to having a child with sickle cell anemia in line with the Healthy People 2020 objective. PMID:25869330

  6. [Chronic renal failure in sickle cell disease: A retrospective analysis of 100 adults sickle cell patients from black Africa].

    PubMed

    Ackoundou-N'Guessan, Clément; Guei, Cyr Monley; Lagou, Delphine Amélie; Gbekedi, Serges; Tia, Mélanie Weu; Coulibaly, Pessa Albert; Nzoue, Sita; Konan, Serges; Koffi, Gustave; Gnionsahe, Daze Apollinaire

    2016-06-01

    The prevalence of chronic renal failure (CRF) in sickle cell disease (SCD) patients could vary from one country to another depending on the modalities of management. The aim of the present study was to appreciate the epidemiology of CRF in SCD patients from black Africa in order to search for promoting factors. One hundred SCD adult patients have been considered for the study. The glomerular filtration rate (GFR) has been estimated according to the CKD-EPI formula. Three groups of patients have been identified according to the value of their GFR. The mean age of the patients was 30.84±8.26 years. Male gender has represented 51% of the study population. The mean GFR value was 175.4±86.2 mL/min/1.73 m(2). The prevalence of CRF was 11%. About 3% of them had severe CRF. Subjects with normal GFR were 20%. Subjects with glomerular hyperfiltration (HF) were 69%. By univariate analysis, when subjects with HF were compared with those presenting normal GFR, the following factors have appeared to be significantly associated: female gender (female 60.9% versus male 39.1%; P<0.01), weight <60 kg (weight <60 kg; 53.67±9.45 kg versus weight >60 kg; 59.9±9.41 kg; P<0.008), age <30 years (younger age 29.36±7.9 years versus older age 35.14±8.02 years; P<0.001), lower hemoglobin value (9.38±2,3 g/dL versus 10.33±2.61 g/dL; P<0.04). By logistic regression analysis, age <30 years (age >30 years; OR=0.12 [CI95% 0.03-04]; P<0.001), female gender (male gender; OR=0.17 [0.04-0.64]; P<0.01), weight <60 kg (weight >60 kg; OR=0.19 [CI95% 0.05-0.72]; P<0.01) were associated with HF. By univariate analysis, when subjects with CRF were compared with those presenting normal GFR, a lower hemoglobin value was significantly associated with CRF (7.92±2.7 g/dL versus 10.43±2.5 g/dL; P<0.009). There was a trend for subjects not being under maintenance therapy to more experience CRF (36.4% versus 70%; P<0.07). By logistic regression analysis, only a low hemoglobin value was

  7. Evaluation of the SCKnowIQ Tool and Reproductive CHOICES Intervention among Young Adults with Sickle Cell Disease or Sickle Cell Trait

    PubMed Central

    Gallo, A. M.; Wilkie, D. J.; Wang, E.; Labotka, R. J.; Molokie, R. E.; Stahl, C.; Hershberger, P. E.; Zhao, Z.; Suarez, M. L.; Johnson, B.; Pullum, C.; Angulo, R.; Thompson, A.

    2013-01-01

    The study purpose was to evaluate a computer-based questionnaire (SCKnowIQ) and CHOICES educational intervention using cognitive interviewing with childbearing-aged people with sickle cell disease (SCD) or trait (SCT). Ten control group participants completed the SCKnowIQ twice. Ten intervention group participants completed the SCKnowIQ before and after the CHOICES intervention. Most participants found the questionnaire items appropriate and responded to items as the investigators intended. Participants’ responses indicated that the information on SCD and SCT and reproductive options was understandable, balanced, important, and new to some. Internal consistency and test-retest reliability were adequate (.47 to .87) for 4 of the 6 scales, with significant within-group changes in knowledge scores for the intervention group but not for the control group. Findings show evidence for potential efficacy of the intervention, but proof of efficacy requires a larger randomized study. PMID:23572406

  8. Sickle Cell Screening: Emphasis on Education

    ERIC Educational Resources Information Center

    Valente, Carmine; Frank, William

    1972-01-01

    This article relates the sickle cell education program, the personnel training and the screening procedures of a pilot sickle cell screening program by the Prince George's County Health Department. (JA)

  9. Amelioration of Sickle Cell Pain after Parathyroidectomy in Two Patients with Concurrent Hyperparathyroidism: An Interesting Finding

    PubMed Central

    Muthu, John

    2016-01-01

    Patients with sickle cell disease have high morbidity and healthcare utilization due to repeated painful crises. Some coexisting conditions which cause pain similar to sickle cell disease may go undiagnosed in these patients. We report two adults with concurrent hyperparathyroidism who experienced significant improvement in sickle cell pain following parathyroidectomy thereby pointing to hyperparathyroidism as the principal causative factor for their pain. Meticulous evaluation for parathyroid disorders can be rewarding in sickle cell disease. PMID:27579039

  10. Amelioration of Sickle Cell Pain after Parathyroidectomy in Two Patients with Concurrent Hyperparathyroidism: An Interesting Finding.

    PubMed

    Muthu, John; Ali, Mir

    2016-01-01

    Patients with sickle cell disease have high morbidity and healthcare utilization due to repeated painful crises. Some coexisting conditions which cause pain similar to sickle cell disease may go undiagnosed in these patients. We report two adults with concurrent hyperparathyroidism who experienced significant improvement in sickle cell pain following parathyroidectomy thereby pointing to hyperparathyroidism as the principal causative factor for their pain. Meticulous evaluation for parathyroid disorders can be rewarding in sickle cell disease. PMID:27579039

  11. Sickle Cell Disease: "Be Sickle Smart!"

    MedlinePlus

    ... a serious and under-recognized condition called iron overload. What has been your approach in raising public ... for their health and be screened for iron overload due to blood transfusions. Be Sickle Smart is ...

  12. Sickle Cell Disease in Saudi Arabia: The Phenotype in Adults with the Arab-Indian Haplotype is not Benign

    PubMed Central

    Alsultan, Abdulrahman; Alabdulaali, Mohammed K.; Griffin, Paula J.; AlSuliman, Ahmed M.; Ghabbour, Hazem A.; Sebastiani, Paola; Albuali, Waleed H.; Al-Ali, Amein K.; Chui, David H.K.; Steinberg, Martin H.

    2014-01-01

    Summary Sickle cell disease (SCD) in Saudi patients from the Eastern Province is associated with the Arab-Indian (AI) HBB (β-globin gene) haplotype. The phenotype of AI SCD in children was described as benign and was attributed to their high fetal haemoglobin (HbF). We conducted a hospital-based study to assess the pattern of SCD complications in adults. A total of 104 patients with average age of 27 years were enrolled. Ninety-six percent of these patients reported history of painful crisis; 47% had at least one episode of acute chest syndrome, however, only 15% had two or more episodes; symptomatic osteonecrosis was reported in 18%; priapism in 17%; overt stroke in 6%; none had leg ulcers. The majority of patients had persistent splenomegaly and 66% had gallstones. Half of the patients co-inherited α-thalassaemia and about one third had glucose-6-phosphate dehydrogenase deficiency. Higher HbF correlated with higher rate of splenic sequestration but not with other phenotypes. The phenotype of adult patients with AI SCD is not benign despite their relatively high HbF level. This is probably due to the continued decline in HbF level in adults and the heterocellular and variable distribution of HbF amongst F-cells. PMID:24224700

  13. Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab-Indian haplotype is not benign.

    PubMed

    Alsultan, Abdulrahman; Alabdulaali, Mohammed K; Griffin, Paula J; Alsuliman, Ahmed M; Ghabbour, Hazem A; Sebastiani, Paola; Albuali, Waleed H; Al-Ali, Amein K; Chui, David H K; Steinberg, Martin H

    2014-02-01

    Sickle cell disease (SCD) in Saudi patients from the Eastern Province is associated with the Arab-Indian (AI) HBB (β-globin gene) haplotype. The phenotype of AI SCD in children was described as benign and was attributed to their high fetal haemoglobin (HbF). We conducted a hospital-based study to assess the pattern of SCD complications in adults. A total of 104 patients with average age of 27 years were enrolled. Ninety-six per cent of these patients reported history of painful crisis; 47% had at least one episode of acute chest syndrome, however, only 15% had two or more episodes; symptomatic osteonecrosis was reported in 18%; priapism in 17%; overt stroke in 6%; none had leg ulcers. The majority of patients had persistent splenomegaly and 66% had gallstones. Half of the patients co-inherited α-thalassaemia and about one-third had glucose-6-phosphate dehydrogenase deficiency. Higher HbF correlated with higher rate of splenic sequestration but not with other phenotypes. The phenotype of adult patients with AI SCD is not benign despite their relatively high HbF level. This is probably due to the continued decline in HbF level in adults and the heterocellular and variable distribution of HbF amongst F-cells. PMID:24224700

  14. Hematologic Disorders: Sickle Cell Disease.

    PubMed

    Baltierra, David; Harper, Tiffany; Jones, Matthew Page; Nau, Konrad C

    2015-06-01

    Sickle cell disease, the most common inherited hemoglobinopathy in the United States, is a group of autosomal recessive red cell disorders resulting from hemoglobin S. Hemoglobin S forms rigid polymers when deoxygenated that give red blood cells their sickle crescent shape. Increased viscosity and cell adhesion result in vasoocclusion. Universal screening of US newborns enables early detection. Prophylactic penicillin through age 5 years and pneumococcal immunization lower the risk of serious pneumococcal infections. Vasoocclusive crises are a major complication and cause severe pain; there is no objective confirmatory test. Intravenous hydration and rapid pain treatment with parenteral opioids are indicated for severe pain. Acute chest syndrome presents as a new pulmonary infiltrate with acute onset of symptoms of lower respiratory disease with or without fever. Stroke, acute ocular conditions, leg ulcers, priapism, and anemia are common complications of sickle cell disease. Hydroxyurea decreases sickling, improves red cell survival, and reduces the frequency of vasoocclusive crises. Hydroxyurea should be considered if three or more vasoocclusive crises occur per year. Multiple therapeutic transfusions are required, and the risks of iron overload and blood antibody development are high. Increased maternal-fetal risk occurs in pregnancy with sickle cell disease. PMID:26080456

  15. Pharmacotherapy of Sickle Cell Disease in Children.

    PubMed

    Neville, Kathleen A; Panepinto, Julie A

    2015-01-01

    Sickle cell disease (SCD) is a potentially devastating and life threatening condition that is caused by an autosomal recessive inherited hemoglobinopathy which results in vaso-occlusive phenomena and hemolysis. The severity of this disorder is widely variable, but overall mortality is increased and life expectancy decreased when compared to the general population. Care of patients with sickle cell disease is largely supportive. In fact, hydroxyurea is the only drug used that modifies disease pathogenesis. Painful vaso-occlusive events are the most common complication experienced by both children and adults with sickle cell disease and hydroxyurea is the only treatment option available to prevent the development of these events. Most events are managed with traditional supportive care measures (i.e. aggressive hydration, antiinflammatory and narcotic analgesics) that have not changed in decades. As such, there is an overwhelming need for both the development of new agents and new approaches to treatment with existing modalities for patients with sickle cell disease. PMID:26517528

  16. Sickle Cell Anaemia and Malaria

    PubMed Central

    Luzzatto, Lucio

    2012-01-01

    Sickle cell anaemia is a major chapter within haemolytic anaemias; at the same time, its epidemiology is a remarkable signature of the past and present world distribution of Plasmodium falciparum malaria. In this brief review, in keeping with the theme of this journal, we focus on the close and complex relationship betweeen this blood disease and this infectious disease. On one hand, heterozygotes for the sickle gene (AS) are relatively protected against the danger of dying of malaria, as now firmly established through a number of clinical field studies from different parts of Africa. In addition, experimental work is consistent with a plausibile mechanism: namely, that in AS heterozygotes P falciparum-infected red cells sickle preferentially and are then removed by macrophages. On the other hand, patients who are homozygous for the sickle gene and therefore suffer from sickle cell anaemia (SCA) are highly susceptible to the lethal effects of malaria. The simplest explanation of this fact is that malaria makes the anaemia of SCA more severe; in addition, in SCA there is often hyposplenism, which reduces clearance of parasites. From the point of view of public health it is important that in malaria-endemic countries patients with SCA, and particularly children, be protected from malaria by appropriate prophylaxis. PMID:23170194

  17. Osteonecrosis in Sickle Cell Disease.

    PubMed

    Naseer, Zan A; Bachabi, Malick; Jones, Lynne C; Sterling, Robert S; Khanuja, Harpal S

    2016-09-01

    Osteonecrosis is one of the most devastating musculoskeletal manifestations of sickle cell disease and most commonly affects the femoral head. Although the exact pathophysiology of this condition in patients with sickle cell disease is unknown, it is suggested that red cell sickling and repetitive vaso-occlusion may be associated with tissue hypoxia, inflammation, and subsequent bone necrosis and collapse. If left untreated, osteonecrosis can be extremely debilitating and may lead to severe pain, loss of function, and degenerative joint changes. Although several conservative management approaches exist, total joint arthroplasty remains the most effective treatment intervention. A multidisciplinary approach among the primary care physician, hematologist, and orthopedic surgeon is essential in optimizing patient management. PMID:27598354

  18. Hydroxyurea-Increased Fetal Hemoglobin Is Associated with Less Organ Damage and Longer Survival in Adults with Sickle Cell Anemia

    PubMed Central

    Fitzhugh, Courtney D.; Hsieh, Matthew M.; Allen, Darlene; Coles, Wynona A.; Seamon, Cassie; Ring, Michael; Zhao, Xiongce; Minniti, Caterina P.; Rodgers, Griffin P.; Schechter, Alan N.; Tisdale, John F.; Taylor, James G.

    2015-01-01

    Background Adults with sickle cell anemia (HbSS) are inconsistently treated with hydroxyurea. Objectives We retrospectively evaluated the effects of elevating fetal hemoglobin with hydroxyurea on organ damage and survival in patients enrolled in our screening study between 2001 and 2010. Methods An electronic medical record facilitated development of a database for comparison of study parameters based on hydroxyurea exposure and dose. This study is registered with ClinicalTrials.gov, number NCT00011648. Results Three hundred eighty-three adults with homozygous sickle cell disease were analyzed with 59 deaths during study follow-up. Cox regression analysis revealed deceased subjects had more hepatic dysfunction (elevated alkaline phosphatase, Hazard Ratio = 1.005, 95% CI 1.003–1.006, p<0.0.0001), kidney dysfunction (elevated creatinine, Hazard Ratio = 1.13, 95% CI 1.00–1.27, p = 0.043), and cardiopulmonary dysfunction (elevated tricuspid jet velocity on echocardiogram, Hazard Ratio = 2.22, 1.23–4.02, p = 0.0082). Sixty-six percent of subjects were treated with hydroxyurea, although only 66% of those received a dose within the recommended therapeutic range. Hydroxyurea use was associated with improved survival (Hazard Ratio = 0.58, 95% CI 0.34–0.97, p = 0.040). This effect was most pronounced in those taking the recommended dose of 15–35 mg/kg/day (Hazard Ratio 0.36, 95% CI 0.17–0.73, p = 0.0050). Hydroxyurea use was not associated with changes in organ function over time. Further, subjects with higher fetal hemoglobin responses to hydroxyurea were more likely to survive (p = 0.0004). While alkaline phosphatase was lowest in patients with the best fetal hemoglobin response (95.4 versus 123.6, p = 0.0065 and 96.1 versus 113.6U/L, p = 0.041 at first and last visits, respectively), other markers of organ damage were not consistently improved over time in patients with the highest fetal hemoglobin levels. Conclusions Our data suggest that adults should be

  19. Reduced fitness and abnormal cardiopulmonary responses to maximal exercise testing in children and young adults with sickle cell anemia

    PubMed Central

    Liem, Robert I; Reddy, Madhuri; Pelligra, Stephanie A; Savant, Adrienne P; Fernhall, Bo; Rodeghier, Mark; Thompson, Alexis A

    2015-01-01

    Physiologic contributors to reduced exercise capacity in individuals with sickle cell anemia (SCA) are not well understood. The objective of this study was to characterize the cardiopulmonary response to maximal cardiopulmonary exercise testing (CPET) and determine factors associated with reduced exercise capacity among children and young adults with SCA. A cross-sectional cohort of 60 children and young adults (mean 15.1 ± 3.4 years) with hemoglobin SS or S/β0 thalassemia and 30 matched controls (mean 14.6 ± 3.5 years) without SCA or sickle cell trait underwent maximal CPET by a graded, symptom-limited cycle ergometry protocol with breath-by-breath, gas exchange analysis. Compared to controls without SCA, subjects with SCA demonstrated significantly lower peak VO2 (26.9 ± 6.9 vs. 37.0 ± 9.2 mL/kg/min, P < 0.001). Subjects demonstrated slower oxygen uptake (ΔVO2/ΔWR, 9 ± 2 vs. 12 ± 2 mL/min/watt, P < 0.001) and lower oxygen pulse (ΔVO2/ΔHR, 12 ± 4 vs. 20 ± 7 mL/beat, P < 0.001) as well as reduced oxygen uptake efficiency (ΔVE/ΔVO2, 42 ± 8 vs. 32 ± 5, P < 0.001) and ventilation efficiency (ΔVE/ΔVCO2, 30.3 ± 3.7 vs. 27.3 ± 2.5, P < 0.001) during CPET. Peak VO2 remained significantly lower in subjects with SCA after adjusting for age, sex, body mass index (BMI), and hemoglobin, which were independent predictors of peak VO2 for subjects with SCA. In the largest study to date using maximal CPET in SCA, we demonstrate that children and young adults with SCA have reduced exercise capacity attributable to factors independent of anemia. Complex derangements in gas exchange and oxygen uptake during maximal exercise are common in this population. PMID:25847915

  20. Iron overload in sickle cell disease.

    PubMed

    Raghupathy, Radha; Manwani, Deepa; Little, Jane A

    2010-01-01

    In sickle cell disease transfusions improve blood flow by reducing the proportion of red cells capable of forming sickle hemoglobin polymer. This limits hemolysis and the endothelial damage that result from high proportions of sickle polymer-containing red cells. Additionally, transfusions are used to increase blood oxygen carrying capacity in sickle cell patients with severe chronic anemia or with severe anemic episodes. Transfusion is well-defined as prophylaxis (stroke) and as therapy (acute chest syndrome and stroke) for major complications of sickle cell disease and has been instituted, based on less conclusive data, for a range of additional complications, such as priapism, vaso-occlusive crises, leg ulcers, pulmonary hypertension, and during complicated pregnancies. The major and unavoidable complication of transfusions in sickle cell disease is iron overload. This paper provides an overview of normal iron metabolism, iron overload in transfused patients with sickle cell disease, patterns of end organ damage, diagnosis, treatment, and prevention of iron overload. PMID:20490352

  1. Fatigue in adolescents and young adults with sickle cell disease: biological and behavioral correlates and health-related quality of life.

    PubMed

    Ameringer, Suzanne; Elswick, R K; Smith, Wally

    2014-01-01

    This descriptive, correlational study examined fatigue and potential biological and behavioral correlates in adolescents and young adults with sickle cell disease. Sixty adolescents and young adults with sickle cell disease completed the Brief Fatigue Inventory, Multidimensional Fatigue Symptom Inventory-Short Form, Patient Reported Outcomes Measurement Information System (PROMIS) fatigue short form and measures of pain, sleep quality, anxiety, depressive mood, stress, disease severity, and quality of life. Blood samples were obtained for hemoglobin and cytokines. Fatigue scores were mostly moderate in severity. Fatigue interfered to a moderate degree with daily activities and correlated significantly with pain, sleep quality, state and trait anxiety, depressive mood, stress, and quality of life. Fatigue was correlated with hemoglobin on the PROMIS measure. Fatigue was not correlated with cytokines or age, nor differed by disease severity. Fatigue was common in these adolescents and young adults, interfered with daily activities such as school, work and exercise, and significantly correlated with several potentially modifiable factors. As life expectancy increases in sickle cell disease, research is needed to test interventions to reduce fatigue. PMID:24378816

  2. Self-perceived loss of control and untreated dental decay in African American adults with and without sickle cell disease.

    PubMed

    Laurence, Brian; Woods, Dexter; George, David; Onyekwere, Onyinye; Katz, Ralph; Lanzkron, Sophie; Diener-West, Marie; Powe, Neil

    2006-08-01

    The aim of this cross-sectional study was to investigate the association between self-perceived loss of control as measured by dental external locus of control summary scores, with the amount of untreated dental decay in African American adults with sickle cell disease (SCD) and African Americans adults without SCD. The sample included 102 subjects with SCD and 103 subjects without SCD matched on age, sex, and recruitment location (mean age of all subjects 35.4 years, 55.6% female). Subjects with SCD in the highest quartile for dental external locus of control summary scores had 2.58-fold (CI 1.05, 6.34) as much untreated decay as those in the lowest quartile (p<.05) in multivariable analysis using the negative binomial regression model. For subjects without SCD, those in the highest quartile for dental external locus of control summary scores had 3.00-fold (CI 1.38, 6.49) as much untreated decay as those in the lowest quartile (p<.05) using similar analysis. This study showed that higher dental external locus of control is associated with increased untreated tooth decay, both for African Americans with and without SCD and that the magnitude of the association did not differ across groups. PMID:16960327

  3. Sickle cell disorder, beta-globin gene cluster haplotypes and alpha-thalassemia in neonates and adults from Guadeloupe.

    PubMed

    Kéclard, L; Romana, M; Lavocat, E; Saint-Martin, C; Berchel, C; Mérault, G

    1997-05-01

    We have studied haplotype of beta(S) chromosome and alpha-globin gene status in 534 patients (255 adults and 279 children of whom 159 neonates) from Guadeloupe with various sickle cell-related conditions, namely SS (n = 298), SC (n = 170), S-beta-thal (n = 56), and other rare forms (n = 10). Haplotype data on beta(S) chromosomes confirm our previous observation that Benin type is the most prevalent (75%) beta(S) chromosome in Guadeloupe, in disagreement with the historical records. Comparison of the frequency of distribution of various beta(S) haplotypes between neonates and adults on the one hand and between SS and SC cases on the other shows that the current beta(S) haplotype distribution in this island is not distorted by haplotype-related differential survival. We also show that the frequency of alpha-thalassemia (-3.7 kb) in Guadeloupe is one of the highest recorded in this region involved in Atlantic slave trade and also failed to reveal any age-dependent increase in frequency. We conclude that the African component of Guadeloupe is distinct from that of Brazil and Cuba but is close to that of Jamaica. PMID:9136913

  4. Quality of care in sickle cell disease: Cross-sectional study and development of a measure for adults reporting on ambulatory and emergency department care.

    PubMed

    Evensen, Christian T; Treadwell, Marsha J; Keller, San; Levine, Roger; Hassell, Kathryn L; Werner, Ellen M; Smith, Wally R

    2016-08-01

    Documented deficiencies in adult sickle cell disease (SCD) care include poor access to knowledgeable providers and inadequate treatment in emergency departments (EDs).The aim of this study was to create patient-reported outcome measures of the quality of ambulatory and ED care for adults with SCD.We developed and pilot tested SCD quality of care questions consistent with Consumer Assessments of Healthcare Providers and Systems surveys. We applied psychometric methods to develop scores and evaluate reliability and validity.The participants of this study were adults with SCD (n = 556)-63% aged 18 to 34 years; 64% female; 64% SCD-SS-at 7 US sites.The measure used was Adult Sickle Cell Quality of Life Measurement information system Quality of Care survey.Most participants (90%) reported at least 1 severe pain episode (pain intensity 7.8 ± 2.3, 0-10 scale) in the past year. Most (81%) chose to manage pain at home rather than the ED, citing negative ED experiences (83%). Using factor analysis, we identified Access, Provider Interaction, and ED Care composites with reliable scores (Cronbach α 0.70-0.83) and construct validity (r = 0.32-0.83 correlations with global care ratings). Compared to general adult Consumer Assessments of Healthcare Providers and Systems scores, adults with SCD had worse care, adjusted for age, education, and general health.Results were consistent with other research reflecting deficiencies in ED care for adults with SCD. The Adult Sickle Cell Quality of Life Measurement Quality of Care measure is a useful self-report measure for documenting and tracking disparities in quality of SCD care. PMID:27583862

  5. Quality of care in sickle cell disease

    PubMed Central

    Evensen, Christian T.; Treadwell, Marsha J.; Keller, San; Levine, Roger; Hassell, Kathryn L.; Werner, Ellen M.; Smith, Wally R.

    2016-01-01

    Abstract Documented deficiencies in adult sickle cell disease (SCD) care include poor access to knowledgeable providers and inadequate treatment in emergency departments (EDs). The aim of this study was to create patient-reported outcome measures of the quality of ambulatory and ED care for adults with SCD. We developed and pilot tested SCD quality of care questions consistent with Consumer Assessments of Healthcare Providers and Systems surveys. We applied psychometric methods to develop scores and evaluate reliability and validity. The participants of this study were adults with SCD (n = 556)—63% aged 18 to 34 years; 64% female; 64% SCD-SS—at 7 US sites. The measure used was Adult Sickle Cell Quality of Life Measurement information system Quality of Care survey. Most participants (90%) reported at least 1 severe pain episode (pain intensity 7.8 ± 2.3, 0–10 scale) in the past year. Most (81%) chose to manage pain at home rather than the ED, citing negative ED experiences (83%). Using factor analysis, we identified Access, Provider Interaction, and ED Care composites with reliable scores (Cronbach α 0.70–0.83) and construct validity (r = 0.32–0.83 correlations with global care ratings). Compared to general adult Consumer Assessments of Healthcare Providers and Systems scores, adults with SCD had worse care, adjusted for age, education, and general health. Results were consistent with other research reflecting deficiencies in ED care for adults with SCD. The Adult Sickle Cell Quality of Life Measurement Quality of Care measure is a useful self-report measure for documenting and tracking disparities in quality of SCD care. PMID:27583862

  6. Red blood cells, multiple sickle cells (image)

    MedlinePlus

    ... inherited disorder in which abnormal hemoglobin (the red pigment inside red blood cells) is produced. The abnormal hemoglobin causes red blood cells to assume a sickle shape, like the ones seen in this photomicrograph.

  7. A double-blind, randomized, multicenter phase 2 study of prasugrel versus placebo in adult patients with sickle cell disease

    PubMed Central

    2013-01-01

    Background Platelet activation has been implicated in the pathogenesis of sickle cell disease (SCD) suggesting antiplatelet agents may be therapeutic. To evaluate the safety of prasugrel, a thienopyridine antiplatelet agent, in adult patients with SCD, we conducted a double-blind, randomized, placebo-controlled study. Methods The primary endpoint, safety, was measured by hemorrhagic events requiring medical intervention. Patients were randomized to prasugrel 5 mg daily (n = 41) or placebo (n = 21) for 30 days. Platelet function by VerifyNow® P2Y12 and vasodilator-stimulated phosphoprotein assays at days 10 and 30 were significantly inhibited in prasugrel- compared with placebo-treated SCD patients. Results There were no hemorrhagic events requiring medical intervention in either study arm. Mean pain rate (percentage of days with pain) and intensity in the prasugrel arm were decreased compared with placebo. However, these decreases did not reach statistical significance. Platelet surface P-selectin and plasma soluble P-selectin, biomarkers of in vivo platelet activation, were significantly reduced in SCD patients receiving prasugrel compared with placebo. In sum, prasugrel was well tolerated and not associated with serious hemorrhagic events. Conclusions Despite the small size and short duration of this study, there was a decrease in platelet activation biomarkers and a trend toward decreased pain. PMID:23414938

  8. Randomized Trial of Hypnosis as a Pain and Symptom Management Strategy in Adults with Sickle Cell Disease

    PubMed Central

    Wallen, Gwenyth R; Middleton, Kimberly R; Ames, Nancy; Brooks, Alyssa T; Handel, Daniel

    2014-01-01

    Sickle cell disease (SCD) is the most common genetic disease in African-Americans, characterized by recurrent painful vaso-occlusive crises. Medical therapies for controlling or preventing crises are limited because of efficacy and/or toxicity. This is a randomized, controlled, single-crossover protocol of hypnosis for managing pain in SCD patients. Participants receive hypnosis from a trained hypnosis therapist followed by six weeks of self-hypnosis using digital media. Those in the control arm receive SCD education followed by a six-week waiting period before crossing over to the hypnosis arm of the study. Outcome measures include assessments of pain (frequency, intensity and quality), anxiety, coping strategies, sleep, depression, and health care utilization. To date, there are no published randomized, controlled trials evaluating the efficacy of hypnosis on SCD pain modulation in adults. Self-hypnosis for pain management may be helpful in modulating chronic pain, improving sleep quality, and decreasing use of narcotics in patients with SCD. TRIAL REGISTRATION ClinicalTrials.gov: NCT00393250 PMID:25520557

  9. Traffic Light: prognosis-based eligibility for clinical trials of hematopoietic SCT in adults with sickle cell anemia.

    PubMed

    Rotz, S J; O'Riordan, M A; Kim, C; de Lima, M; Gladwin, M T; Little, J A

    2015-07-01

    Estimating prognosis in sickle cell anemia (SCA) assumes greater importance as intensive treatments, such as hematopoietic SCT (HSCT), are being tested. Here we estimate the mortality risk from the walk-PHaSST (Sildenafil Therapy for Pulmonary Hypertension and Sickle Cell Disease) trial of homozygous SCA patients with suspected pulmonary hypertension (19/468 deaths; 10 centers in the US and UK). Parallel investigations were also undertaken in the Cooperative Study of Sickle Cell Disease (CSCCD) and a contemporary urban sickle cell disease population (Case Western Reserve University-University Hospitals (CWRU-UH), Cleveland, OH, USA). One- and two-value positive predictive values for 2-year mortality (from study entry) are calculated using factors that include demographics, laboratory values and clinical evaluations. We define high-, intermediate-, and low-risk SCA as > 15%, 10-15% and < 10% 2-year mortality. In walk-PHaSST, no single factor qualifies as high-risk SCA, although several combinations of two factors (that is, both age > 35 years and history of chronic transfusion) do. Either elevated white blood cell count (> 13.5 × 10(3) cells/mcL, 7/70 deaths) or elevated Tricuspid Regurgitant Jet Velocity (⩾ 3.0 m/s, 8/67 deaths) was individually associated with intermediate-risk disease, as were many two-factor combinations. N-terminal pro-brain natriuretic peptide > 160 ng/L, lactate dehydrogenase > 600 IU/L, history of chronic transfusion, sepsis or age > 35 years are individually associated with low-risk SCA, as are many two-factor combinations. SCA risk was integrated with estimated donor type-associated risk from HSCT to form 'Traffic Light' eligibility criteria for clinical trials of HSCT. This method is adaptable to evolutions in clinical care. PMID:25774596

  10. Abnormalities in Cardiac Structure and Function in Adults with Sickle Cell Disease are not Associated with Pulmonary Hypertension

    PubMed Central

    Knight-Perry, Jessica E.; de las Fuentes, Lisa; Waggoner, Alan D.; Hoffmann, Raymond G.; Blinder, Morey A.; Dávila-Román, Victor G.; Field, Joshua J.

    2011-01-01

    Background In sickle cell disease (SCD), pulmonary hypertension (assessed by tricuspid regurgitant jet [TRJ] velocity ≥ 2.5 m/s) is associated with increased mortality. The relationships between TRJ velocity, left ventricular (LV) and right ventricular (RV) systolic and diastolic function (i.e., relaxation and compliance) have not been well characterized in SCD. Design and Methods Prospective study of 53 ambulatory SCD adults (age, mean: 34 years; range 21-65 years) and 33 African American controls to define the relationship between LV and RV function and TRJ velocity by use of echocardiography. Results SCD subjects had larger left and right atrial volumes and increased LV mass compared to controls. When SCD cases were compared to controls, LV and RV relaxation (i.e., E’) were similar. Among SCD subjects, pulmonary hypertension (TRJ ≥ 2.5 m/s) was present in 40% of cases. Higher TRJ velocity was correlated with larger LA volumes and areas in SCD cases. Additionally, some measures of LV (peak A, lateral and septal annulus E/E’) and RV compliance (TV E/E’) were correlated with TRJ velocity. No other measures of LV/RV systolic function or LV diastolic function (i.e., relaxation and compliance) were associated with TRJ velocity. Conclusions Ambulatory adults with SCD exhibited structural (i.e., LV and RV chamber enlargement) and functional (i.e., higher surrogate measures of LV and RV filling pressure) abnormalities compared to the control group. In SCD subjects, few abnormalities of LV and RV structure/function were associated with TRJ velocity. PMID:21873028

  11. Adult sickle cell disease epidemiology and the potential role of a multidisciplinary comprehensive care center in a city with low prevalence.

    PubMed

    Binding, Andrew; Valentine, Karen; Poon, Man-Chiu; Sayani, Farzana A

    2014-01-01

    The aim of this study was to determine the characteristics of the sickle cell disease population in a city of low prevalence and compare them to those reported in the literature. We performed a retrospective cross-sectional study of all sickle cell disease patients seen in the Calgary Health Region, Calgary, Alberta, Canada from 2006 to 2010. Data on clinical endpoints including emergency department (ED) visits, hospital admissions, transfusions, as well as laboratory parameters were collected. A total of 37 adult sickle cell disease patients were identified. Over 5 years, they were represented by a total of 49.2 ED presentations/year, 29.2 (59.0%) of these requiring admission. Eighty-three percent of these presentations were for acute pain episodes. We concluded that the number of ED visits, hospital admissions and several other parameters in our cohort were similar to those in other centers of higher prevalence. This suggests that guidelines representing regions of high prevalence may be applicable to smaller centers, where patients experience similar clinical outcomes. PMID:25222043

  12. [Neonatal screening for sickle-cell disease].

    PubMed

    Wierenga, K J

    1997-01-25

    Through migration and birth sickle cell disease has become an important health problem in the Netherlands: it is estimated that each year between 25 and 40 children are born with a form of sickle cell disease. A programme designed towards parental education, prevention and early intervention for complications of sickle cell disease (notably penicillin prophylaxis to prevent pneumococcal septicaemia and meningitis) may lead to reduction in morbidity. Early diagnosis is indicated since children with sickle cell disease will benefit most from such a programme in the first few years of life. PMID:9064525

  13. The lung in sickle cell disease.

    PubMed

    Knight, J; Murphy, T M; Browning, I

    1999-09-01

    Sickle cell disease is the most common inherited disorder in African-Americans. Although the primary defect is hematological, the changes in the erythrocytes lead to a vasculopathy with multiorgan injury. The pulmonary complications, i.e., acute chest syndrome and chronic sickle cell lung disease, are significant causes of morbidity and mortality. The pulmonary manifestations result from a unique constellation of factors which come into play in sickle cell disease. Based on the growing understanding of the molecular and cellular biology of sickle cell disease, new therapies are being developed that are likely to ameliorate the natural history of this disease and its complications. PMID:10495338

  14. The Myth of Sickle Cell Trait

    PubMed Central

    Bristow, Lonnie R.

    1974-01-01

    Recently emphasis in the problem of sickle hemoglobinopathy has been on mass screening of the black population. Concern about the alleged danger in having sickle cell trait itself is offered as part of the justification. This danger is disputed and a position developed for the benign status of sickle cell trait and the potentially serious social harm to blacks so identified. Programs are suggested to foster improved medical care availability and early detection for those with sickle cell anemia. It is suggested that mandatory patient programs be avoided, and that research receive greater emphasis. PMID:4840172

  15. A systematic review of the association between depression and health care utilization in children and adults with sickle cell disease.

    PubMed

    Jonassaint, Charles R; Jones, Victor L; Leong, Sharlene; Frierson, Georita M

    2016-07-01

    Patients with sickle cell disease (SCD) experience a disproportionately high use of health care resources. Several studies have examined depression and other negative mood states as risk factors for increased health care utilization; however, there have been no systematic reviews examining and summarizing this evidence in SCD. The aim of this systematic review, therefore, was to determine whether depression or depressive symptoms are associated with health care utilization among children and adults with SCD. We followed a quantitative systematic review protocol based on the Preferred Reporting Items for Systematic Reviews and Meta- Analyses guidelines and performed a literature search of records from January 1980 to April 2014 using six databases. Empirical studies were eligible if the sample was primarily composed of patients with SCD and included data on depression, mood disorder diagnosis or depressive symptoms and health care utilization. We included 12 studies involving 54 036 unique participants. The prevalence estimates for depression ranged from 2-57%. Seven studies found a significant, or marginally significant, association between depression and utilization while five did not. Patients reporting depression had an estimated 2·8 times greater relative risk of being a high utilizer, and 2·9 versus 1·8 hospitalizations per year on average compared to patients without depression. Overall, depressive symptoms are common in SCD and may increase risk for poor outcomes including health care utilization. The available studies on depression in SCD, however, are limited by small sample sizes, retrospective designs or short follow-up. This systematic review found a modest association between depression and health care utilization in SCD. PMID:26991317

  16. Pulmonary complications of sickle cell disease.

    PubMed

    Khoury, Ruby A; Musallam, Khaled M; Mroueh, Salman; Abboud, Miguel R

    2011-01-01

    The pulmonary complications of sickle cell disease are a major cause of morbidity and mortality in affected patients. The acute chest syndrome (ACS) is a leading cause of death in patients with sickle cell disease and has a multifactorial etiology. Hydroxyurea (HU), stem cell transplantation (SCT) and chronic transfusions are known to prevent the recurrence of ACS. Careful management of patients admitted for pain crises and surgery including use of incentive spirometry is critical in preventing this complication. Pulmonary hypertension is well known to be associated with sickle cell disease and patients with pulmonary hypertension have increased mortality. Asthma is also commonly seen in patients with sickle cell disease and is associated with a more complicated course. Chronic lung disease develops in a significant proportion of patients with sickle cell disease. PMID:21973051

  17. Chest pain in sickle cell disease.

    PubMed

    Tonino, S H; Nur, E; Otten, H M; Wykrzykowska, J J; Hoekstra, J B L; Biemond, B J

    2013-06-01

    The differential diagnosis of chest pain in a patient with sickle cell disease is difficult and may encompass several serious conditions, including chest syndrome, pulmonary embolism and infectious complications. In this manuscript we provide an overview on the various underlying diseases that may cause chest pain in patients with sickle cell disease and provide clues for a proper diagnostic workup. PMID:23799317

  18. Sickle cell disease and dental treatment.

    PubMed

    Piccin, Andrea; Fleming, Pádraig; Eakins, Elva; McGovern, Eleanor; Smith, Owen P; McMahon, Corrina

    2008-01-01

    Sickle cell disease (SCD) and sickle cell trait (SCT) are found most frequently in individuals of African, Middle Eastern and Indian ethnicity. Population migration has made this disease more common worldwide, including Ireland. We present an overview of this disease, focusing on management and practical implications for dental practitioners. PMID:18578383

  19. Sickle Cell Trait, Exercise, and Altitude.

    ERIC Educational Resources Information Center

    Eichner, Edward R.

    1986-01-01

    Sickle cell trait is generally benign and does not shorten life, but it may confer some small risk with extremes of exercise or altitude. Research concerning these risks is presented, and it is concluded sickle cell trait is no barrier to outstanding athletic performance. (Author/MT)

  20. The Student with Sickle Cell Anemia.

    ERIC Educational Resources Information Center

    Tetrault, Sylvia M.

    1981-01-01

    Sickle cell anemia is the most common and severe of inherited chronic blood disorders. In the United States, sickle cell anemia is most common among the Black population. Among the most commonly occurring symptoms are: an enlarged spleen, episodes of severe pain, easily contracted infections, skin ulcers, and frequent urination. (JN)

  1. Pulmonary Complications of Sickle Cell Disease

    PubMed Central

    Miller, Andrew C.

    2012-01-01

    Sickle cell disease (SCD) is a common monogenetic disorder with high associated morbidity and mortality. The pulmonary complications of SCD are of particular importance, as acute chest syndrome and pulmonary hypertension have the highest associated mortality rates within this population. This article reviews the pathophysiology, diagnosis, and treatment of clinically significant pulmonary manifestations of SCD, including acute chest syndrome, asthma, and pulmonary hypertension in adult and pediatric patients. Clinicians should be vigilant in screening and treating such comorbidities to improve patient outcomes. PMID:22447965

  2. When Blood Cells Bend: Understanding Sickle Cell Disease

    MedlinePlus

    ... oxygen. This medical emergency, called a sickle cell crisis, can be treated with pain medication and blood ... Although the treatment of sickle cell disease pain crisis hasn’t changed much since the discovery of ...

  3. 21 CFR 864.7825 - Sickle cell test.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Sickle cell test. 864.7825 Section 864.7825 Food... DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Kits and Packages § 864.7825 Sickle cell test. (a) Identification. A sickle cell test is a device used to determine the sickle cell hemoglobin content of...

  4. 21 CFR 864.7825 - Sickle cell test.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Sickle cell test. 864.7825 Section 864.7825 Food... DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Kits and Packages § 864.7825 Sickle cell test. (a) Identification. A sickle cell test is a device used to determine the sickle cell hemoglobin content of...

  5. 21 CFR 864.7825 - Sickle cell test.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Sickle cell test. 864.7825 Section 864.7825 Food... DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Kits and Packages § 864.7825 Sickle cell test. (a) Identification. A sickle cell test is a device used to determine the sickle cell hemoglobin content of...

  6. 21 CFR 864.7825 - Sickle cell test.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Sickle cell test. 864.7825 Section 864.7825 Food... DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Kits and Packages § 864.7825 Sickle cell test. (a) Identification. A sickle cell test is a device used to determine the sickle cell hemoglobin content of...

  7. 21 CFR 864.7825 - Sickle cell test.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Sickle cell test. 864.7825 Section 864.7825 Food... DEVICES HEMATOLOGY AND PATHOLOGY DEVICES Hematology Kits and Packages § 864.7825 Sickle cell test. (a) Identification. A sickle cell test is a device used to determine the sickle cell hemoglobin content of...

  8. Nonmyeloablative Stem Cell Transplantation with Alemtuzumab/Low-Dose Irradiation to Cure and Improve the Quality of Life of Adults with Sickle Cell Disease.

    PubMed

    Saraf, Santosh L; Oh, Annie L; Patel, Pritesh R; Jalundhwala, Yash; Sweiss, Karen; Koshy, Matthew; Campbell-Lee, Sally; Gowhari, Michel; Hassan, Johara; Peace, David; Quigley, John G; Khan, Irum; Molokie, Robert E; Hsu, Lewis L; Mahmud, Nadim; Levinson, Dennis J; Pickard, A Simon; Garcia, Joe G N; Gordeuk, Victor R; Rondelli, Damiano

    2016-03-01

    Allogeneic hematopoietic stem cell transplantation (HSCT) is rarely performed in adult patients with sickle cell disease (SCD). We utilized the chemotherapy-free, alemtuzumab/total body irradiation 300 cGy regimen with sirolimus as post-transplantation immunosuppression in 13 high-risk SCD adult patients between November 2011 and June 2014. Patients received matched related donor (MRD) granulocyte colony-stimulating factor-mobilized peripheral blood stem cells, including 2 cases that were ABO incompatible. Quality-of-life (QoL) measurements were performed at different time points after HSCT. All 13 patients initially engrafted. A stable mixed donor/recipient chimerism was maintained in 12 patients (92%), whereas 1 patient not compliant with sirolimus experienced secondary graft failure. With a median follow-up of 22 months (range, 12 to 44 months) there was no mortality, no acute or chronic graft-versus-host disease (GVHD), and no grades 3 or 4 extramedullary toxicities. At 1 year after transplantation, patients with stable donor chimerism have normalized hemoglobin concentrations and improved cardiopulmonary and QoL parameters including bodily pain, general health, and vitality. In 4 patients, sirolimus was stopped without rejection or SCD-related complications. These results underscore the successful use of a chemotherapy-free regimen in MRD HSCT for high-risk adult SCD patients and demonstrates a high cure rate, absence of GVHD or mortality, and improvement in QoL including the applicability of this regimen in ABO mismatched cases (NCT number 01499888). PMID:26348889

  9. Reproductive Health CHOICES for Young Adults with Sickle Cell Disease or Trait: Randomized Controlled Trial Immediate Posttest Effects

    PubMed Central

    Wilkie, Diana J; Gallo, Agatha M.; Yao, Yingwei; Molokie, Robert E.; Stahl, Christine; Hershberger, Patricia E.; Zhao, Zhongsheng; Suarez, Marie L.; Labotka, Robert J.; Johnson, Bonnye; Angulo, Rigo; Angulo, Veronica; Carrasco, Jesus; Shuey, David; Pelligra, Stephanie; Wang, Edward; Rogers, Dennie T.; Thompson, Alexis A.

    2013-01-01

    Background People with sickle cell disease (SCD) or sickle cell trait (SCT) may not have information about genetic inheritance needed for making informed reproductive health decisions. CHOICES is a web-based, multimedia educational intervention that provides information about reproductive options and consequences to help those with SCD or SCT identify and implement an informed parenting plan. Efficacy of CHOICES compared with usual care must be evaluated. Objective The purpose was to compare immediate posttest effects of CHOICES versus an attention control usual care intervention (e-Book) on SCD/SCT-related reproductive health knowledge, intention, and behavior. Methods In a randomized controlled study, we recruited subjects with SCD/SCT from clinics, community settings, and online networks with data collected at sites convenient to the 234 subjects with SCD (n = 136) or SCT (n = 98) (age ranged from18-35 years, 65% were female, and 94% were African American). Subjects completed a measure of sickle cell reproductive knowledge, intention, and behavior before and immediately after the intervention. Results Compared to the e-Book group, the CHOICES group had significantly higher average knowledge scores and probability of reporting a parenting plan to avoid SCD or SCD and SCT when pretest scores were controlled. Effects on intention and planned behavior were not significant. The CHOICES group showed significant change in their intention and planned behavior; the e-Book group did not show significant change in their intention, but their planned behavior differed significantly. Discussion Initial efficacy findings are encouraging but warrant planned booster sessions and outcome follow-ups to determine sustained intervention efficacy on reproductive health knowledge, intention, and actual behavior of persons with SCD/SCT. PMID:23995469

  10. Establishment of a Transgenic Sickle-Cell Mouse Model to Study the Pathophysiology of Priapism

    PubMed Central

    Bivalacqua, Trinity J.; Musicki, Biljana; Hsu, Lewis L.; Gladwin, Mark T.; Burnett, Arthur L.; Champion, Hunter C.

    2013-01-01

    Introduction Priapism is a poorly understood disease process with little information on the etiology and pathophysiology of this erectile disorder. One group of patients with a high prevalence of priapism is men with sickle-cell disease. Aim Establish an in vivo transgenic sickle-cell mouse model to study the pathophysiology of sickle-cell disease-associated priapism. Methods Transgenic sickle-cell disease mice, expressing human sickle hemoglobin, were utilized. Three groups of mice were used: (i) wild type (WT), (ii) sickle-cell heterozygotes (Hemi), and (ii) sickle-cell homozygotes (Sickle). Two age groups of each cohort of mice were utilized: young adult (4–6 months) and aged (18–22 months). Main Outcome Measures Histological (trichrome stain to measure ratio of collagen to smooth muscle), penile hydroxyproline content (collagen content), and transmission electron microscopic analysis of WT, Hemi, and Sickle mice penes, as well as in vivo erectile responses [change in intracavernous pressure (ICP)] to cavernous nerve stimulation (CNS), were determined. The frequency of erectile responses (erections/hour) pre- and poststimulation was also measured in each of the experimental groups. Results Sickle mice had increased (P < 0.05) collagen to smooth muscle ratio and hydroxyproline content in the penis when compared with WT and Hemi mice penes. Transmission electron microscopy demonstrated thickened smooth muscle cell bundles, disruption of the endothelial lining of the corporal sinusoids, and increased (P < 0.05) caveolae number. Sickle mice had significantly (P < 0.05) higher ICP to CNS and increased (P < 0.05) frequency of erections pre- and post-CNS when compared with WT and Hemi mice erectile responses. Sickle mice did develop ED (change in ICP in response to CNS) with increasing age. Conclusion The morphometric changes of the penis and exaggerated in vivo erectile responses support the use of this transgenic sickle-cell disease animal model to study the

  11. Sickle Cell Disease in Pregnancy.

    PubMed

    Hathaway, Amanda Redden

    2016-09-01

    Sickle cell disease (SCD) is the most common hereditary disorder and affects 30 million people worldwide. Advances in science have improved overall survival in patients with SCD and as such, more patients are reaching reproductive age and are becoming pregnant. SCD in pregnancy leads to multiple complications that put both the mother and fetus at risk, and patients with SCD have six times the mortality during pregnancy as compared with patients without SCD. This review summarizes the maternal and fetal risks of patients with SCD and makes recommendations on how best to care for these patients throughout all stages of pregnancy. PMID:27598360

  12. Nocturnal enuresis in sickle cell disease.

    PubMed

    Wolf, Rachel B; Kassim, Adetola A; Goodpaster, Robert L; DeBaun, Michael R

    2014-04-01

    Nocturnal enuresis is a prevalent and challenging problem in children and young adults with sickle cell disease (SCD). Limited progress has been made in elucidating etiology and pathophysiology of nocturnal enuresis in individuals with SCD. Among adults with SCD ages 18-20 years, approximately 9% report nocturnal enuresis. Nocturnal enuresis contributes to decreased health related quality of life in people with SCD, resulting in low self-esteem and sometimes social isolation. Postulated non-mutually exclusive causes of nocturnal enuresis in individuals with SCD include hyposthenuria leading to nocturnal polyuria, decreased bladder capacity or nocturnal bladder overactivity, increased arousal thresholds, and sleep disordered breathing. No evidence-based therapy for nocturnal enuresis in SCD exists. This review is focused on describing the natural history, postulated causes and a rational approach to the evaluation and management of nocturnal enuresis in children and adults with SCD. PMID:24617333

  13. Crises in Sickle Cell Disease.

    PubMed

    Novelli, Enrico M; Gladwin, Mark T

    2016-04-01

    In spite of significant strides in the treatment of sickle cell disease (SCD), SCD crises are still responsible for high morbidity and early mortality. While most patients initially seek care in the acute setting for a seemingly uncomplicated pain episode (pain crisis or vaso-occlusive crisis), this initial event is the primary risk factor for potentially life-threatening complications. The pathophysiological basis of these illnesses is end-organ ischemia and infarction combined with the downstream effects of hemolysis that results from red blood cell sickling. These pathological changes can occur acutely and lead to a dramatic clinical presentation, but are frequently superimposed over a milieu of chronic vasculopathy, immune dysregulation, and decreased functional reserve. In the lungs, acute chest syndrome is a particularly ominous lung injury syndrome with a complex pathogenesis and potentially devastating sequelae, but all organ systems can be affected. It is, therefore, critical to understand the SCD patients' susceptibility to acute complications and their risk factors so that they can be recognized promptly and managed effectively. Blood transfusions remain the mainstay of therapy for all severe acute crises. Recommendations and indications for the safest and most efficient implementation of transfusion strategies in the critical care setting are therefore presented and discussed, together with their pitfalls and potential future therapeutic alternatives. In particular, the importance of extended phenotypic red blood cell matching cannot be overemphasized, due to the high prevalence of severe complications from red cell alloimmunization in SCD. PMID:26836899

  14. Reproductive Health CHOICES for Young Adults with Sickle Cell Disease or Trait: Randomized Controlled Trial Outcomes over Two Years.

    PubMed

    Gallo, Agatha M; Wilkie, Diana J; Yao, Yingwei; Molokie, Robert E; Stahl, Christiane; Hershberger, Patricia E; Zhao, Zhongsheng; Suarez, Marie L; Johnson, Bonnye; Angulo, Rigoberto; Carrasco, Jesus; Angulo, Veronica; Thompson, Alexis A

    2016-04-01

    Interventions to assist reproductive health decision-making in populations affected by sickle cell disease (SCD) or trait (SCT) lack proven efficacy over time. Our aim was to compare effects of CHOICES, a Web-based multimedia education program on implementing informed reproductive plans, and usual care education (e-Book) on reproductive knowledge, intention, and behavior over 24 months. We randomized 234 participants with SCD (n = 138) or SCT (n = 96) (age 18-35 years, 35 % male, 94 % African American) to CHOICES and e-Book groups. Participants completed a sickle cell-specific reproductive measure before and four times after the intervention (6, 12, 18 and 24 months). Compared to the e-Book group the CHOICES group had significantly more improvement in knowledge over time (p = .004) but not intention (p = .18) or behavior (p = .69). At baseline, 114 (48.7 %) participants reported having partners who would not put the couple at risk for their children inheriting SCD. Of the 116 (49.6 %) at-risk participants, a higher poroportion of those who were in the CHOICES group chose partners that reduced their risk by the last visit than the e-Book group (p = .04). Study findings provide important insights for designing a national trial of the CHOICES intervention focusing on subjects whose partner status puts them at risk for having a child with SCD. PMID:26310871

  15. Genetic modulation of sickle cell anemia

    SciTech Connect

    Steinberg, M.H.

    1995-05-01

    Sickle cell anemia, a common disorder associated with reduced life span of the red blood cell and vasoocclusive events, is caused by a mutation in the {Beta}-hemoglobin gene. Yet, despite this genetic homogeneity, the phenotype of the disease is heterogeneous. This suggests the modulating influence of associated inherited traits. Some of these may influence the accumulation of fetal hemoglobin, a hemoglobin type that interferes with the polymerization of sickle hemoglobin. Another inherited trait determines the accumulation of {alpha}-globin chains. This review focuses on potential genetic regulators of the phenotype of sickle cell anemia. 125 refs., 6 figs., 3 tabs.

  16. Sickle Cell Research: Yesterday, Today, and Tomorrow | NIH MedlinePlus the Magazine

    MedlinePlus

    ... Javascript on. Special Section: Sickle Cell Disease Sickle Cell Research: Yesterday, Today, and Tomorrow Past Issues / Winter 2011 ... a painful, lifelong battle. But advances in sickle cell research are allowing many sickle cell patients to live ...

  17. Curative treatment for severe sickle cell disease: allogeneic transplantation.

    PubMed

    Oshrine, Benjamin; Talano, Julie-An

    2015-04-01

    Sickle cell disease is an inherited hematologic disorder that in its severe form can result in substantial morbidity and early mortality. Patients with this disorder can suffer from severe pain, lung disease, and strokes, resulting in chronic debilitating conditions, end organ dysfunction, and organ failure. The health care costs of caring for these chronically ill patients are substantial. Allogeneic transplantation is a modality that has the potential to cure these patients. To date, matched sibling donor transplantation is widely accepted as a standard of care for pediatric patients. Utilizing alternative donors for transplant is still under investigation, as is transplant for adult patients with sickle cell disease. This review focuses on the most recent data for hematopoietic cell transplantation for patients with sickle cell disease. PMID:26352583

  18. Sickle cell anemia

    MedlinePlus

    ... blocked by the abnormal cells: Painful and prolonged erection ( priapism ) Poor eyesight or blindness Problems with thinking ... headache, fatigue) Pain crises Painful and long-term erection (in men)

  19. Sickle Cell Disease Pain: Relation of Coping Strategies to Adjustment.

    ERIC Educational Resources Information Center

    Gil, Karen M.; And Others

    1989-01-01

    Examined pain coping strategies in 79 adult sickle cell disease (SCD) patients. Results revealed that coping strategies factors were important predictors of pain and adjustment. Subjects high on Negative Thinking and Passive Adherence had more severe pain, were less active and more distressed, and used more health services. Individuals high on…

  20. Genetic Modifiers of Sickle Cell Disease

    PubMed Central

    Steinberg, Martin H.; Sebastiani, Paola

    2015-01-01

    Sickle cell anemia is associated with unusual clinical heterogeneity for a Mendelian disorder. Fetal hemoglobin concentration and coincident ∝ thalassemia, both which directly affect the sickle erythrocyte, are the major modulators of the phenotype of disease. Understanding the genetics underlying the heritable subphenotypes of sickle cell anemia would be prognostically useful, could inform personalized therapeutics, and might help the discovery of new “druggable” pathophysiologic targets. Genotype-phenotype association studies have been used to identify novel genetic modifiers. In the future, whole genome sequencing with its promise of discovering hitherto unsuspected variants could add to our understanding of the genetic modifiers of this disease. PMID:22641398

  1. Sickle Cell Disease Association of America

    MedlinePlus

    ... Sickle Cell Caucus Advocacy Toolkit Become an Advocate Overview Scholarships » Kermit B. Nash » Post-Doctoral Fellowship Technical Training Purpose Registration Abstract Submission Agenda Key Speakers Lodging & Venue Transportation Sponsors / Partners Exhibitor Info News & Press Photos Video ...

  2. Neuroimaging findings in sickle cell disease

    PubMed Central

    Burke, C; Siddiqui, A

    2014-01-01

    At least 25% of individuals with sickle cell disease will have a neurological complication over their lifetime, often as early as in childhood. Neuroradiological findings in patients with sickle cell disease are common and include acute territorial infarction, silent ischaemia and intracranial haemorrhage. Imaging abnormalities are typically, but not always, manifestations of the underlying vasculopathy. Coexisting acute and chronic pathology may pose challenges to interpretation. PMID:24847772

  3. Pain from sickle-cell crisis.

    PubMed

    Waters, J; Thomas, V

    A qualitative questionnaire survey was carried out to identify the perceptions and expectations of pain management of patients with sickle-cell disease, and of nurses. The study illustrates that the present sample of nurses contributed to the poor pain control of sickle-cell patients because of their misconceptions about narcotic addiction, inadequate formal pain assessment and their neglect of attention to the psychosocial implications of this chronic disease. PMID:7731853

  4. Sickle Cell Trait Not Linked to Early Death in Study

    MedlinePlus

    ... html Sickle Cell Trait Not Linked to Early Death in Study However, black soldiers with the gene ... cell gene variant, are at risk of premature death. People with the sickle cell gene variant do ...

  5. Sickle Cell Screening: Medical, Legal, Ethical, Psychological and Social Problems; A Sickle Cell Crisis.

    ERIC Educational Resources Information Center

    Bowman, James E.

    In recent years, sickle cell screening programs have been initiated by community groups, health centers, hospitals, medical schools, health departments, school systems, city and State governments, various branches of the Federal Government, fraternal and social clubs, and other organizations. Problems have resulted from mass sickle cell screening,…

  6. Sickle cell, habitual dys-positions and fragile dispositions: young people with sickle cell at school

    PubMed Central

    Dyson, Simon M; Atkin, Karl; Culley, Lorraine A; Dyson, Sue E; Evans, Hala

    2011-01-01

    The experiences of young people living with a sickle cell disorder in schools in England are reported through a thematic analysis of forty interviews, using Bourdieu’s notions of field, capital and habitus. Young people with sickle cell are found to be habitually dys-positioned between the demands of the clinic for health maintenance through self-care and the field of the school, with its emphases on routines, consistent attendance and contextual demands for active and passive pupil behaviour. The tactics or dispositions that young people living with sickle cell can then employ, during strategy and struggle at school, are therefore fragile: they work only contingently, transiently or have the unintended consequences of displacing other valued social relations. The dispositions of the young people with sickle cell are framed by other social struggles: innovations in school procedures merely address aspects of sickle cell in isolation and are not consolidated into comprehensive policies; mothers inform, liaise, negotiate and advocate in support of a child with sickle cell but with limited success. Reactions of teachers and peers to sickle cell have the enduring potential to drain the somatic, cultural and social capital of young people living with sickle cell. PMID:21375541

  7. The lung in sickle cell disease: a clinical overview of common vascular, infectious, and other problems.

    PubMed

    Young, R C; Castro, O; Baxter, R P; Dunn, R; Armstrong, E M; Cook, F J; Sampson, C C

    1981-01-01

    Acute pulmonary complications of sickle cell anemia are sickle cell lung disease and bacterial pneumonias. Chronic abnormalities in lung function include a restrictive ventilatory defect and perhaps increased venous admixture to the pulmonary circulation. Coexisting sarcoidosis may complicate sickle cell anemia and interact to potentiate sickling. Sickle cell lung disease, or acute "chest syndrome," occurs with greatest frequency in adults, is due primarily to pulmonary infarction, and may lead to cor pulmonale. On the other hand, bacterial pneumonia due to Streptococcus pneumoniae occurs with greater frequency in infancy and childhood. Mycoplasma and other organisms may also cause pneumonia with protracted illness and slow resolution. Bacteremia and meningitis may be further complications, particularly in children. Precise diagnosis of the acute febrile pulmonary episode is often difficult. In adults the illness is commonly self-limited. However, a vigorous diagnostic approach is warranted in all severely ill patients. PMID:7463492

  8. Current management of sickle cell anemia.

    PubMed

    McGann, Patrick T; Nero, Alecia C; Ware, Russell E

    2013-08-01

    Proper management of sickle cell anemia (SCA) begins with establishing the correct diagnosis early in life, ideally during the newborn period. The identification of affected infants by neonatal screening programs allows early initiation of prophylactic penicillin and pneumococcal immunizations, which help prevent overwhelming sepsis. Ongoing education of families promotes the early recognition of disease-released complications, which allows prompt and appropriate medical evaluation and therapeutic intervention. Periodic evaluation by trained specialists helps provide comprehensive care, including transcranial Doppler examinations to identify children at risk for primary stroke, plus assessments for other parenchymal organ damage as patients become teens and adults. Treatment approaches that previously highlighted acute vaso-occlusive events are now evolving to the concept of preventive therapy. Liberalized use of blood transfusions and early consideration of hydroxyurea treatment represent a new treatment paradigm for SCA management. PMID:23709685

  9. Current Management of Sickle Cell Anemia

    PubMed Central

    McGann, Patrick T.; Nero, Alecia C.; Ware, Russell E.

    2013-01-01

    Proper management of sickle cell anemia (SCA) begins with establishing the correct diagnosis early in life, ideally during the newborn period. The identification of affected infants by neonatal screening programs allows early initiation of prophylactic penicillin and pneumococcal immunizations, which help prevent overwhelming sepsis. Ongoing education of families promotes the early recognition of disease-released complications, which allows prompt and appropriate medical evaluation and therapeutic intervention. Periodic evaluation by trained specialists helps provide comprehensive care, including transcranial Doppler examinations to identify children at risk for primary stroke, plus assessments for other parenchymal organ damage as patients become teens and adults. Treatment approaches that previously highlighted acute vaso-occlusive events are now evolving to the concept of preventive therapy. Liberalized use of blood transfusions and early consideration of hydroxyurea treatment represent a new treatment paradigm for SCA management. PMID:23709685

  10. Mechanisms of sickle cell alloimmunization☆

    PubMed Central

    Yazdanbakhsh, K.

    2016-01-01

    Red blood cell (RBC) alloimmunization can be a life-threatening complication for patients with sickle cell disease (SCD) receiving therapeutic transfusions. Despite provision of extended antigen-matched donor RBCs, patients continue to develop antibodies due to high degree of polymorphisms in the immunogenic antigens in individuals of African ancestry. Identification of biomarkers of alloimmunization in this patient population is therefore of great interest and will help to identify in advance patients most likely to make antibodies in response to transfusion. We have recently identified altered T cell responses and innate immune abnormalities in alloimmunized SCD patients. In this paper, we summarize this work and propose our working model of how innate immune abnormalities can contribute to pathogenic T cell responses in alloimmunized SCD patients. We believe that unravelling the basis of such altered interactions at the cellular and molecular level will help future identification of biomarkers of alloimmunization with the goal that this information will ultimately help guide therapy in these patients. PMID:26056038

  11. Intravenous support for the patient in sickle cell crisis.

    PubMed

    Odesina, V

    2001-01-01

    Sickle cell episodes (otherwise known as crises) are inevitable complications of sickle cell disease (SCD). Successful management of these episodes includes hydration, medication administration, and blood transfusion. Intravenous support is an essential component in the management of sickle cell-related complications. This article gives an overview of SCD and its complications and treatments, focusing on infusion therapy support of the patient during a sickle cell episode. PMID:11836842

  12. Sickle cell disease in Orissa State, India.

    PubMed

    Kar, B C; Satapathy, R K; Kulozik, A E; Kulozik, M; Sirr, S; Serjeant, B E; Serjeant, G R

    1986-11-22

    A study of 131 patients with homozygous sickle cell (SS) disease in Orissa State, India, indicated that, compared with Jamaican patients, Indian patients have higher frequencies of alpha thalassaemia, higher fetal haemoglobin, total haemoglobin, and red cell counts, and lower mean cell volume, mean cell haemoglobin concentration, and reticulocyte counts. Indian patients have a greater frequency and later peak incidence of splenomegaly, and hypersplenism is common. Painful crises and dactylitis are not uncommon in Indian patients but chronic leg ulceration is rare. Homozygous sickle cell disease in Orissa is similar to that in the Eastern Province of Saudi Arabia and is very different from that in populations of West African origin. PMID:2430154

  13. Analysis of oxidative status and biochemical parameters in adult patients with sickle cell anemia treated with hydroxyurea, Ceará, Brazil

    PubMed Central

    Teixeira Neto, Paulo Florentino; Gonçalves, Romélia Pinheiro; Elias, Darcielle Bruna Dias; de Araújo, Cleiton Pinheiro; Magalhães, Hemerson Iury Ferreira

    2011-01-01

    Background Sickle cell anemia is a hemoglobinopathy caused by a mutation that results in the production of an abnormal hemoglobin molecule, hemoglobin S (Hb S). This is responsible for profound physiological changes, such as the sickling of red blood cells. Several studies have shown that hydroxyurea protects against vaso-occlusive crises. Objective The aim of this study was to evaluate the oxidative stress associated with biochemical parameters in patients with sickle cell anemia treated with hydroxyurea. Methods The study was conducted with 20 male and 25 female patients at the Hospital Universitário Walter Cantídio. The patients were divided into two groups: a study group (n = 12), patients with sickle cell anemia who were receiving hydroxyurea and a control group (n = 33) of sickle cell anemia patients not submitted to hydroxyurea treatment. The biochemical parameters analyzed were ferritin, transferrin, and serum iron. Glutathione was measured in its reduced form to analyze the oxidative state. Results The results showed insignificant increases in the levels of serum iron, transferrin and ferritin in patients treated with hydroxyurea when compared with those who did not take the medication. However, the glutathione levels were significantly higher in patients taking hydroxyurea than in controls. Conclusions These results indicate that hydroxyurea possibly acts as an antioxidant by increasing glutathione levels. PMID:23049297

  14. Legal, Ethical, Social and Economic Issues in Sickle Cell Program

    ERIC Educational Resources Information Center

    Bowman, James E.

    1973-01-01

    Urges that mandatory sickle cell screening laws be repealed, and that all screening programs be voluntary; bogus sickle cell organizations are a major crisis in black communities and must be eliminated; research and education in sickle cell disease is badly needed. (Author/JM)

  15. 78 FR 44575 - Sickle Cell Disease Treatment Demonstration Program

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-07-24

    ... HUMAN SERVICES Health Resources and Services Administration Sickle Cell Disease Treatment Demonstration... Services (HHS). ACTION: Request for Class Deviation for Non-Competitive Extension: Sickle Cell Disease... nine programs that are funded through competitive grant awards under the Sickle Cell Disease...

  16. Sickle cell disease: renal manifestations and mechanisms

    PubMed Central

    Nath, Karl A.; Hebbel, Robert P.

    2015-01-01

    Sickle cell disease (SCD) substantially alters renal structure and function, and causes various renal syndromes and diseases. Such diverse renal outcomes reflect the uniquely complex vascular pathobiology of SCD and the propensity of red blood cells to sickle in the renal medulla because of its hypoxic, acidotic, and hyperosmolar conditions. Renal complications and involvement in sickle cell nephropathy (SCN) include altered haemodynamics, hypertrophy, assorted glomerulopathies, chronic kidney disease, acute kidney injury, impaired urinary concentrating ability, distal nephron dysfunction, haematuria, and increased risks of urinary tract infections and renal medullary carcinoma. SCN largely reflects an underlying vasculopathy characterized by cortical hyperperfusion, medullary hypoperfusion, and an increased, stress-induced vasoconstrictive response. Renal involvement is usually more severe in homozygous disease (sickle cell anaemia, HbSS) than in compound heterozygous types of SCD (for example HbSC and HbSβ+-thalassaemia), and is typically mild, albeit prevalent, in the heterozygous state (sickle cell trait, HbAS). Renal involvement contributes substantially to the diminished life expectancy of patients with SCD, accounting for 16–18% of mortality. As improved clinical care promotes survival into adulthood, SCN imposes a growing burden on both individual health and health system costs. This Review addresses the renal manifestations of SCD and focuses on their underlying mechanisms. PMID:25668001

  17. Deterministic Aperiodic Sickle Cell Blood Flows

    NASA Astrophysics Data System (ADS)

    Atsaves, Louis; Harris, Wesley

    2013-11-01

    In this paper sickle cell blood flow in the capillaries is modeled as a hydrodynamical system. The hydrodynamical system consists of the axisymmetric unsteady, incompressible Navier-Stokes equations and a set of constitutive equations for oxygen transport. Blood cell deformation is not considered in this paper. The hydrodynamical system is reduced to a system of non-linear partial differential equations that are then transformed into a system of three autonomous non-linear ordinary differential equations and a set of algebraic equations. We examine the hydrodynamical system to discern stable/unstable, periodic/nonperiodic, reversible/irreversible properties of the system. The properties of the solutions are driven in large part by the coefficients of the governing system of equations. These coefficients depend on the physiological properties of the sickle cell blood. The chaotic nature of the onset of crisis in sickle cell patients is identified. Research Assistant.

  18. Assessing Chaos in Sickle Cell Anemia Crises

    NASA Astrophysics Data System (ADS)

    Harris, Wesley; Le Floch, Francois

    2006-11-01

    Recent developments in sickle cell research and blood flow modeling allow for new interpretations of the sickle cell crises. With an appropriate set of theoretical and empirical equations describing the dynamics of the red cells in their environment, and the response of the capillaries to major changes in the rheology, a complete mathematical system has been derived. This system of equations is believed to be of major importance to provide new and significant insight into the causes of the disease and related crises. With simulations, it has been proven that the system transition from a periodic solution to a chaotic one, which illustrates the onset of crises from a regular blood flow synchronized with the heart beat. Moreover, the analysis of the effects of various physiological parameters exposes the potential to control chaotic solutions, which, in turn, could lead to the creation of new and more effective treatments for sickle cell anemia. .

  19. Prenatal Sickle Cell Screening Education Effect on the Follow-up Rates of Infants with Sickle Cell Trait.

    ERIC Educational Resources Information Center

    Yang, Yih-Ming; Andrews, Susan; Peterson, Rose; Shah, Arvind; Cepeda, Manuel

    2000-01-01

    Assesses the effect of prenatal education about newborn sickle cell screening on parents' compliance with the follow-up for infants with sickle cell trait. Results show that parents whose prenatal education included sickle cell hemoglobinopathy information retained significantly more of the information given during the post-natal education than…

  20. Fetal hemoglobin in sickle cell anemia.

    PubMed

    Akinsheye, Idowu; Alsultan, Abdulrahman; Solovieff, Nadia; Ngo, Duyen; Baldwin, Clinton T; Sebastiani, Paola; Chui, David H K; Steinberg, Martin H

    2011-07-01

    Fetal hemoglobin (HbF) is the major genetic modulator of the hematologic and clinical features of sickle cell disease, an effect mediated by its exclusion from the sickle hemoglobin polymer. Fetal hemoglobin genes are genetically regulated, and the level of HbF and its distribution among sickle erythrocytes is highly variable. Some patients with sickle cell disease have exceptionally high levels of HbF that are associated with the Senegal and Saudi-Indian haplotype of the HBB-like gene cluster; some patients with different haplotypes can have similarly high HbF. In these patients, high HbF is associated with generally milder but not asymptomatic disease. Studying these persons might provide additional insights into HbF gene regulation. HbF appears to benefit some complications of disease more than others. This might be related to the premature destruction of erythrocytes that do not contain HbF, even though the total HbF concentration is high. Recent insights into HbF regulation have spurred new efforts to induce high HbF levels in sickle cell disease beyond those achievable with the current limited repertory of HbF inducers. PMID:21490337

  1. Pulse oximetry in sickle cell disease.

    PubMed

    Weston Smith, S G; Glass, U H; Acharya, J; Pearson, T C

    1989-01-01

    The place of pulse oximetry in monitoring arterial oxygen saturation in sickle cell disease has been evaluated. In four admissions of patients with sickle cell anaemia with varying degrees of arterial haemoglobin oxygen desaturation, pulse oximetry was compared with a simultaneous assessment of oxygen saturation by arterial blood gas measurement and oxygen dissociation curve (ODC) analysis. Close agreement was found between the oxygen saturation measured by pulse oximetry and that calculated from the measured arterial partial pressure of oxygen (PaO2) with reference to the patient's own ODC. Calculation of oxygen saturation by the blood gas analyser assuming a normal ODC was erroneous. Pulse oximetry is an accurate and effective non-invasive method for monitoring the arterial oxygen saturation in sickle cell disease. PMID:2591150

  2. Ectodermal dysplasia associated with sickle cell disease.

    PubMed

    Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique

    2014-01-01

    Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses. PMID:25343049

  3. Transgenic knockout mice with exclusively human sickle hemoglobinand sickle cell disease

    SciTech Connect

    Paszty, C.; Brion, C.; Manci, E.; Witkowska, E.; Stevens, M.; Narla, M.; Rubin, E.

    1997-06-13

    To create mice expressing exclusively human sicklehemoglobin (HbS), transgenic mice expressing human alpha-, gamma-, andbeta[S]-globin were generated and bred with knockout mice that haddeletions of the murine alpha- and beta-globin genes. These sickle cellmice have the major features (irreversibly sickled red cells, anemia,multiorgan pathology) found in humans with sickle cell disease and, assuch, represent a useful in vivo system to accelerate the development ofimproved therapies for this common genetic disease.

  4. Rheology of the sickle cell disorders.

    PubMed

    Stuart, J; Johnson, C S

    1987-09-01

    The sickling process causes secondary changes in cell shape, size, cation and water content, and membrane structure that contribute to the impairment of intrinsic cell deformability (Figure 2). This rheological defect is partially compensated by a low haematocrit, which moderates the rise in whole-blood viscosity, and by a rise in cardiac output which increases capillary flow velocity (Berger and King, 1982). A delicate balance exists between these mechanisms and any local disturbance of this balance by pathological changes in factors extrinsic to the sickle cell (Figure 2) can precipitate vaso-occlusion. There is still considerable controversy over the site (arteriolar, capillary, or venular) of vaso-occlusion, the type of sickle cell (reversibly sickled or irreversibly sickled) that is primarily involved, and the relative importance of extra-erythrocytic precipitating factors such as stasis, hypoxia, hyperosmolality, acidosis, alteration in temperature, acute-phase rise in plasma proteins and leukocytes, prothrombotic changes in coagulation factors and platelets, and adhesion of blood cells to vascular endothelium (Figure 2). A low-grade hypercoagulable state has been described in patients with SS (Leichtman and Brewer, 1978; Richardson et al, 1979) which may be related to the procoagulant effect of the shift of phosphatidyl serine to the outer lipid bilayer of the sickle cell (Chiu et al, 1981; Franck et al, 1985). Platelets appear to accumulate at sites of vaso-occlusion (Siegel et al, 1985) and their migration to the vessel wall may be enhanced by the presence of poorly deformable erythrocytes (Aarts et al, 1984). Endothelial cell damage in the arterial or venous circulation may also contribute (Klug et al, 1982). Thus vaso-occlusion appears to result from a complex interaction between blood cells, plasma proteins and endothelium and any one of several precipitating factors may disturb the fragile steady state and cause a painful crisis. The study of sickle

  5. Blood transfusion in sickle cell disease leading to posterior reversible encephalopathy syndrome (PRES).

    PubMed

    Raj, Shashi; Killinger, James; Overby, Philip

    2013-10-01

    Children with sickle cell disease have a very high risk of lifelong neurologic morbidity and mortality. Cerebrovascular accidents are a known complication in children with sickle cell disease. Posterior reversible encephalopathy syndrome is a constellation of acute neurologic findings increasingly recognized in pediatric critical care population with evidence of vasogenic edema on brain imaging possibly due to cerebral vascular endothelial cell dysfunction. This report, for the first time, describes a young adult with sickle cell disease who developed posterior reversible encephalopathy syndrome following blood transfusion. PMID:22899796

  6. Sickle cell disease; a general overview.

    PubMed

    Schnog, J B; Duits, A J; Muskiet, F A J; ten Cate, H; Rojer, R A; Brandjes, D P M

    2004-11-01

    Sickle cell disease (SCD) is a heterogeneous disorder, with clinical manifestations including chronic haemolysis, an increased susceptibility to infections and vaso-occlusive complications often requiring medical care. Patients with SCD can develop specific and sometimes life-threatening complications, as well as extensive organ damage reducing both their quality of life and their life expectancy. Proven effective treatment options for sickle cell patients are limited to hydroxyurea, blood transfusions and bone marrow transplantation. With the increasing prevalence of SCD in the Netherlands, a fundamental understanding of its pathophysiology and clinical syndromes is of importance for local medical practitioners. PMID:15683091

  7. Spontaneous labyrinthine hemorrhage in sickle cell disease.

    PubMed

    Whitehead, R E; MacDonald, C B; Melhem, E R; McMahon, L

    1998-09-01

    We report the clinical and MR imaging findings in two African-American patients with manifestations of sickle cell disease affecting the inner ear. Both suffered sudden-onset sensorineural hearing loss and vestibular symptoms, and both had high labyrinthine signal on T1-weighted MR images attributed to labyrinthine hemorrhage. Follow-up studies of the first patient revealed a decrease in abnormal vestibular signal. Careful attention to the labyrinth on T1-weighted MR images can reveal vestibulocochlear clinical findings in sickle cell patients, with important implications for management and prognosis. PMID:9763373

  8. The Invisible Malady: Sickle Cell Anemia

    PubMed Central

    Savitt, Todd L.

    1981-01-01

    Though several articles have appeared on the history of sickle cell anemia in the United States, none has dealt with the dissemination of information from the scientific community to the public. It is an interesting commentary on our society that 60 years have passed before this important but racially oriented disease has reached the public forum. In this article, the author tries to describe the major events in the history of sickle cell anemia and to explain why it has not been publicized. PMID:7021863

  9. Sickle cell detection using a smartphone.

    PubMed

    Knowlton, S M; Sencan, I; Aytar, Y; Khoory, J; Heeney, M M; Ghiran, I C; Tasoglu, S

    2015-01-01

    Sickle cell disease affects 25% of people living in Central and West Africa and, if left undiagnosed, can cause life threatening "silent" strokes and lifelong damage. However, ubiquitous testing procedures have yet to be implemented in these areas, necessitating a simple, rapid, and accurate testing platform to diagnose sickle cell disease. Here, we present a label-free, sensitive, and specific testing platform using only a small blood sample (<1 μl) based on the higher density of sickle red blood cells under deoxygenated conditions. Testing is performed with a lightweight and compact 3D-printed attachment installed on a commercial smartphone. This attachment includes an LED to illuminate the sample, an optical lens to magnify the image, and two permanent magnets for magnetic levitation of red blood cells. The sample is suspended in a paramagnetic medium with sodium metabisulfite and loaded in a microcapillary tube that is inserted between the magnets. Red blood cells are levitated in the magnetic field based on equilibrium between the magnetic and buoyancy forces acting on the cells. Using this approach, we were able to distinguish between the levitation patterns of sickle versus control red blood cells based on their degree of confinement. PMID:26492382

  10. Sickle cell detection using a smartphone

    PubMed Central

    Knowlton, S. M.; Sencan, I.; Aytar, Y.; Khoory, J.; Heeney, M. M.; Ghiran, I. C.; Tasoglu, S.

    2015-01-01

    Sickle cell disease affects 25% of people living in Central and West Africa and, if left undiagnosed, can cause life threatening “silent” strokes and lifelong damage. However, ubiquitous testing procedures have yet to be implemented in these areas, necessitating a simple, rapid, and accurate testing platform to diagnose sickle cell disease. Here, we present a label-free, sensitive, and specific testing platform using only a small blood sample (<1 μl) based on the higher density of sickle red blood cells under deoxygenated conditions. Testing is performed with a lightweight and compact 3D-printed attachment installed on a commercial smartphone. This attachment includes an LED to illuminate the sample, an optical lens to magnify the image, and two permanent magnets for magnetic levitation of red blood cells. The sample is suspended in a paramagnetic medium with sodium metabisulfite and loaded in a microcapillary tube that is inserted between the magnets. Red blood cells are levitated in the magnetic field based on equilibrium between the magnetic and buoyancy forces acting on the cells. Using this approach, we were able to distinguish between the levitation patterns of sickle versus control red blood cells based on their degree of confinement. PMID:26492382

  11. Relationship between pulmonary and cardiac abnormalities in sickle cell disease: implications for the management of patients

    PubMed Central

    Maioli, Maria Christina Paixão; Soares, Andrea Ribeiro; Bedirian, Ricardo; Alves, Ursula David; de Lima Marinho, Cirlene; Lopes, Agnaldo José

    2015-01-01

    Objective To evaluate the association between clinical, pulmonary, and cardiovascular findings in patients with sickle cell disease and, secondarily, to compare these findings between sickle cell anemia patients and those with other sickle cell diseases. Methods Fifty-nine adults were included in this cross-sectional study; 47 had sickle cell anemia, and 12 had other sickle cell diseases. All patients underwent pulmonary function tests, chest computed tomography, and echocardiography. Results Abnormalities on computed tomography, echocardiography, and pulmonary function tests were observed in 93.5%, 75.0%; and 70.2% of patients, respectively. A higher frequency of restrictive abnormalities was observed in patients with a history of acute chest syndrome (85% vs. 21.6%; p-value < 0.0001) and among patients with increased left ventricle size (48.2% vs. 22.2%; p-value = 0.036), and a higher frequency of reduced respiratory muscle strength was observed in patients with a ground-glass pattern (33.3% vs. 4.3%; p-value = 0.016). Moreover, a higher frequency of mosaic attenuation was observed in patients with elevated tricuspid regurgitation velocity (61.1% vs. 24%; p-value = 0.014). Compared to patients with other sickle cell diseases, sickle cell anemia patients had suffered increased frequencies of acute pain episodes, and acute chest syndrome, and exhibited mosaic attenuation on computed tomography, and abnormalities on echocardiography. Conclusion A significant interrelation between abnormalities of the pulmonary and cardiovascular systems was observed in sickle cell disease patients. Furthermore, the severity of the cardiopulmonary parameters among patients with sickle cell anemia was greater than that of patients with other sickle cell diseases. PMID:26969771

  12. A GCH1 haplotype confers sex-specific susceptibility to pain crises and altered endothelial function in adults with sickle cell anemia.

    PubMed

    Belfer, Inna; Youngblood, Victoria; Darbari, Deepika S; Wang, Zhengyuan; Diaw, Lena; Freeman, Lita; Desai, Krupa; Dizon, Michael; Allen, Darlene; Cunnington, Colin; Channon, Keith M; Milton, Jacqueline; Hartley, Stephen W; Nolan, Vikki; Kato, Gregory J; Steinberg, Martin H; Goldman, David; Taylor, James G

    2014-02-01

    GTP cyclohydrolase (GCH1) is rate limiting for tetrahydrobiopterin (BH4) synthesis, where BH4 is a cofactor for nitric oxide (NO) synthases and aromatic hydroxylases. GCH1 polymorphisms are implicated in the pathophysiology of pain, but have not been investigated in African populations. We examined GCH1 and pain in sickle cell anemia where GCH1 rs8007267 was a risk factor for pain crises in discovery (n = 228; odds ratio [OR] 2.26; P = 0.009) and replication (n = 513; OR 2.23; P = 0.004) cohorts. In vitro, cells from sickle cell anemia subjects homozygous for the risk allele produced higher BH4. In vivo physiological studies of traits likely to be modulated by GCH1 showed rs8007267 is associated with altered endothelial dependent blood flow in females with SCA (8.42% of variation; P = 0.002). The GCH1 pain association is attributable to an African haplotype with where its sickle cell anemia pain association is limited to females (OR 2.69; 95% CI 1.21-5.94; P = 0.01) and has the opposite directional association described in Europeans independent of global admixture. The presence of a GCH1 haplotype with high BH4 in populations of African ancestry could explain the association of rs8007267 with sickle cell anemia pain crises. The vascular effects of GCH1 and BH4 may also have broader implications for cardiovascular disease in populations of African ancestry. PMID:24136375

  13. Advanced Renal Failure in Patients with Sickle Cell Anemia: Clinical Course and Prognosis

    PubMed Central

    Cruz, Iluminado A.; Hosten, Adrian O.; Dillard, Martin G.; Castro, Oswaldo L.

    1982-01-01

    Advanced renal failure occurred in nine adult sickle cell disease patients. There were six men and three women with a mean age of 38.6 years. Eight patients had homozygous SS disease, one had sickle cell thalassemia. Three patients had acute renal failure from which they partially recovered. Six developed endstage kidney disease requiring dialysis. Two of these received a kidney transplant, and there was one death in the immediate postoperative period. Angina pectoris, hyperkalemia, and severe anemia complicated chronic dialysis, suggesting that early transplantation should be considered for sickle cell anemia patients with renal failure. PMID:6757451

  14. Neutrophil chemotaxis in sickle cell anaemia, sickle cell beta zero thalassaemia, and after splenectomy.

    PubMed Central

    Donadi, E A; Falcão, R P

    1987-01-01

    Neutrophil chemotaxis was evaluated in 28 patients with sickle cell anaemia, 10 patient with sickle cell beta zero thalassaemia, 25 patients who had undergone splenectomy, and 38 controls. The mean distance migrated by patients' neutrophils was not significantly different from that of neutrophils from controls. Although several immunological variables have been reported to be changed after loss of splenic function, we were unable to show a defect in neutrophil chemotaxis that could account for the increased susceptibility to infection. PMID:3611395

  15. Hematopoietic Stem Cell Transplantation in Thalassemia and Sickle Cell Anemia

    PubMed Central

    Lucarelli, Guido; Isgrò, Antonella; Sodani, Pietro; Gaziev, Javid

    2012-01-01

    The globally widespread single-gene disorders β-thalassemia and sickle cell anemia (SCA) can only be cured by allogeneic hematopoietic stem cell transplantation (HSCT). HSCT treatment of thalassemia has substantially improved over the last two decades, with advancements in preventive strategies, control of transplant-related complications, and preparative regimens. A risk class–based transplantation approach results in disease-free survival probabilities of 90%, 84%, and 78% for class 1, 2, and 3 thalassemia patients, respectively. Because of disease advancement, adult thalassemia patients have a higher risk for transplant-related toxicity and a 65% cure rate. Patients without matched donors could benefit from haploidentical mother-to-child transplantation. There is a high cure rate for children with SCA who receive HSCT following myeloablative conditioning protocols. Novel non-myeloablative transplantation protocols could make HSCT available to adult SCA patients who were previously excluded from allogeneic stem cell transplantation. PMID:22553502

  16. Neurocognitive Aspects of Pediatric Sickle Cell Disease.

    ERIC Educational Resources Information Center

    Brown, Ronald T.; And Others

    1993-01-01

    This literature review on neurocognitive functioning and learning of children with sickle cell disease found diffuse neurocognitive deficits, with much variability across subjects. Studies of psychosocial development of these children indicate that behavioral problems, low self-esteem, and body image disturbances are frequently characteristic.…

  17. Sickle Cell Trait and Scholastic Achievement

    ERIC Educational Resources Information Center

    Jackson, Yvonne; Ayrer, James

    1974-01-01

    In a preliminary study, no significant interaction effects were found between scholastic achievement and sickle cell trait in black children currently in eight and ninth grades, as measured by the Iowa Tests of Basic Skills over a consecutive period of four years, 1968 through 1971, grades four through seven. (EH)

  18. Ophthalmic Manifestations of Sickle Cell Disease.

    PubMed

    Scott, Adrienne W

    2016-09-01

    Sickle cell disease (SCD), the most common inherited blood disorder, is characterized by defective oxygen transport. Every part of the eye can be affected by microvascular occlusions from SCD; however, the major cause of vision loss is proliferative sickle cell retinopathy (PSR). Although individuals with the HbSS genotype of SCD manifest more systemic morbidity and those with the HbSC genotype have a milder clinical course, those with HbSC have an increased risk of developing PSR and resultant vision loss. Sickle cell retinopathy has a variable phenotype, even among individuals with the same genotype. Most patients with SCD maintain good vision because the associated retinopathy occurs in the retinal periphery, and any associated "sea fan" neovascularization has a high tendency to autoinfarct and regress. Vision loss from PSR is largely preventable via regular retinal examinations and treatment as indicated. Novel retinal imaging techniques such as wide-field fluorescein angiography, spectral domain optical coherence tomography, and optical coherence tomography angiography can identify evidence of retinal microvascular occlusions in most patients with SCD. Further study is necessary to discover which individuals are at highest risk for vision loss, which of these retinal imaging modalities is clinically important, and which systemic treatments may decrease risk of vision loss from sickle cell retinopathy. PMID:27598358

  19. Sickle Cell: A Selected Resource Bibliography.

    ERIC Educational Resources Information Center

    National Center for Education in Maternal and Child Health, Washington, DC.

    This annotated, selective bibliography lists the following types of educational and informational material on both sickle cell disease and trait: (1) professional education materials; (2) fact sheets, pamphlets, and brochures; and (3) audiovisual material. A selected list of references is provided for the following topic areas: (1) genetic…

  20. Sickle Cell Disease as a Neurodevelopmental Disorder

    ERIC Educational Resources Information Center

    Schatz, Jeffrey; McClellan, Catherine B.

    2006-01-01

    Sickle cell disease (SCD) is a blood disorder; however, the central nervous system (CNS) is one of the organs frequently affected by the disease. Brain disease can begin early in life and often leads to neurocognitive dysfunction. Approximately one-fourth to one-third of children with SCD have some form of CNS effects from the disease, which…

  1. Asthma in Sickle Cell Disease: Implications for Treatment

    PubMed Central

    Blake, Kathryn; Lima, John

    2011-01-01

    Objective. To review issues related to asthma in sickle cell disease and management strategies. Data Source. A systematic review of pertinent original research publications, reviews, and editorials was undertaken using MEDLlNE, the Cochrane Library databases, and CINAHL from 1947 to November 2010. Search terms were [asthma] and [sickle cell disease]. Additional publications considered relevant to the sickle cell disease population of patients were identified; search terms included [sickle cell disease] combined with [acetaminophen], [pain medications], [vitamin D], [beta agonists], [exhaled nitric oxide], and [corticosteroids]. Results. The reported prevalence of asthma in children with sickle cell disease varies from 2% to approximately 50%. Having asthma increases the risk for developing acute chest syndrome , death, or painful episodes compared to having sickle cell disease without asthma. Asthma and sickle cell may be linked by impaired nitric oxide regulation, excessive production of leukotrienes, insufficient levels of Vitamin D, and exposure to acetaminophen in early life. Treatment of sickle cell patients includes using commonly prescribed asthma medications; specific considerations are suggested to ensure safety in the sickle cell population. Conclusion. Prospective controlled trials of drug treatment for asthma in patients who have both sickle cell disease and asthma are urgently needed. PMID:21490765

  2. Monovalent cation transport in irreversibly sickled cells.

    PubMed Central

    Clark, M R; Morrison, C E; Shohet, S B

    1978-01-01

    Using discontinuous density gradients of Stractan II, we have separated sickle cell blood into discrete subpopulations of reticulocytes, mature discoid cells, and irreversibly sickled cells (ISCs). We have measured active and passive fluxes of monovalent cations in mature discoid cells, ISCs, and normal control cells, also separated upon density gradients. These measurements revealed a decreased active cation transport in ISC-rich populations. However, parallel measurements of Na, K-ATPase activity showed normal ouabain-sensitive ATPase activity in ISCs. Passive permeability to external Rb was also normal in ISCs. The observation of depressed pump activity in intact ISCs, contrasted with normal ATPase activity in ISC membranes, suggests the presence of factors in the intact cell which inhibit the active transport of Na and K in ISCs. PMID:149799

  3. Management of Sickle Cell Disease in Children.

    PubMed

    Noronha, Suzie A; Sadreameli, S Christy; Strouse, John J

    2016-09-01

    Sickle cell disease (SCD) is a heterogeneous inherited disorder of hemoglobin that causes chronic hemolytic anemia, vaso-occlusion, and endothelial dysfunction. These physiologic derangements often lead to multiorgan damage in infancy and throughout childhood. The most common types of SCD are homozygous hemoglobin S (HbSS disease), hemoglobin SC disease, and sickle β thalassemia. HbSS disease and sickle β(0) thalassemia often are referred to as sickle cell anemia because they have similar severity. Screening and preventive measures, including infection prophylaxis and vaccination, have significantly improved outcomes for children with SCD. Evidence-based therapies, such as hydroxyurea and transfusion, play an important role in preventing progression of select complications. Many chronic complications develop insidiously and require multidisciplinary care for effective treatment. Primary care physicians, as well as physicians in many other disciplines, may care for these patients and should be familiar with the potential acute and chronic complications of this disease. This review addresses healthcare maintenance guidelines, common complications, and recommendations for management of pediatric patients with SCD. PMID:27598348

  4. Clinical Evaluation of MP4CO: A Phase 1b Escalating-Dose, Safety and Tolerability Study in Stable Adult Patients with Sickle Cell Disease.

    PubMed

    Keipert, Peter E

    2016-01-01

    MP4CO, developed by Sangart Inc. (San Diego, CA), is a pegylated human hemoglobin-based carbon monoxide (CO) delivery agent and oxygen therapeutic that has shown potential to prevent and reverse red cell sickling. A double blind, comparator controlled, dose-escalation, Phase 1b study was conducted to assess the safety of MP4CO. Adult sickle cell patients with HbSS or S/β(0) Thal genotype who were not experiencing a painful crisis were randomized to receive either MP4CO or normal saline (NS) in a sequential series of six escalating dose cohorts (A-F). In each cohort, three patients received MP4CO (Treatment group) and one patient received NS (Controls). Single IV doses ranged from 15 mg/kg/dose (0.35 mL/kg infusion) to 172 mg/kg/dose (4 mL/kg infusion). Two cohorts received fractionated doses of 172 or 344 mg/kg (4-8 mL/kg, given as two IV infusions, 24 h apart). Overall, 16/24 patients (66.7 %) reported mild to moderate adverse events (AEs); with 13/18 (72 %) in MP4CO group vs. 3/6 (50 %) in NS Controls. No serious adverse events (SAEs) were experienced and no deaths occurred. Most common AEs (reported by >2 patients) included headaches (mild and transient), fatigue and rash at the application site of the Holter electrodes. No treatment-emergent abnormalities in clinical lab values were noted. Vital signs, ECG readings, and pulmonary pressures remained within normal limits. The maximum increase in blood CO-Hb level was ~2 %, which returned to pre-dosing levels within 8 h after dosing. The mean increase in free plasma Hb (an index of MP4CO dose) ranged from 0.20 to 0.35 g/dL in the two highest dose cohorts, with no significant change in total whole blood hemoglobin level. There was no symptomatic or clinical evidence of renal dysfunction in either group based on serum creatinine and urinary albumin results. Two patients had elevated renal biomarkers (β2M and NAG) at Hour 72, which normalized at follow-up visits. Both patients had documented intercurrent

  5. Microparticles in sickle cell anaemia: promise and pitfalls.

    PubMed

    Hebbel, Robert P; Key, Nigel S

    2016-07-01

    Blood from patients with sickle cell disease contains microparticles (MP) derived from multiple cell sources, including red cells, platelets, monocytes and endothelial cells. MPs are of great interest because of their disease associations, their status as promising biomarkers, and the intercellular communications they mediate. To illustrate the likelihood of their relevance in sickle cell disease, we discuss the nature of MP, their profiling in sickle disease, some caveats relevant to their detection, their roles in supporting coagulation and the disparate influences they may exert upon the pathobiology of sickle cell disease. PMID:27136195

  6. The glomerulopathy of sickle cell disease

    PubMed Central

    Ataga, Kenneth I; Derebail, Vimal K; Archer, David R

    2014-01-01

    Sickle cell disease (SCD) produces many structural and functional abnormalities in the kidney, including glomerular abnormalities. Albuminuria is the most common manifestation of glomerular damage, with a prevalence between 26 and 68% in adult patients. The pathophysiology of albuminuria in SCD is likely multifactorial, with contributions from hyperfiltration, glomerular hypertension, ischemia-reperfusion injury, oxidative stress, decreased nitric oxide (NO) bioavailability, and endothelial dysfunction. Although its natural history in SCD remains inadequately defined, albuminuria is associated with increased echocardiography-derived tricuspid regurgitant jet velocity, systemic blood pressure, and hypertension, as well as history of stroke, suggesting a shared vasculopathic pathophysiology. While most patients with albuminuria are treated with angiotensin converting enzyme inhibitors/angiotensin receptor blockers, there are no published long-term data on the efficacy of these agents. With the improved patient survival following kidney transplantation, SCD patients with end-stage renal disease should be considered for this treatment modality. Given the high prevalence of albuminuria and its association with multiple SCD-related clinical complications, additional studies are needed to answer several clinically important questions in a bid to adequately elucidate its pathophysiology, natural history, and treatment. PMID:24840607

  7. Smoothing the crescent curve: sickle cell disease.

    PubMed

    Talano, Julie-An; Cairo, Mitchell S

    2014-12-01

    Sickle cell disease (SCD) is an inherited disorder secondary to a point mutation at the sixth position of the beta chain of human hemoglobin that results in the replacement of valine for glutamic acid. This recessive genetic abnormality precipitates the polymerization of the deoxygenated form of hemoglobin S that induces a major distortion of red blood cells (sickle red blood cells), which decreases sickle red blood cell deformability, leading to chronic hemolysis and vasoocclusion. These processes can result in severe complications, including chronic pain, end organ dysfunction, stroke, and early mortality. The only proven curative therapy for patients with SCD is myeloablative conditioning and allogeneic stem cell transplantation from HLA-matched sibling donors. In this review, we discuss the most recent advances in allogeneic stem cell transplantation in SCD, including more novel approaches such as reduced toxicity conditioning and the use of alternative allogeneic donors (matched unrelated donors, umbilical cord blood transplantation, haploidentical donors) and autologous gene correction stem cell strategies. Prospects are bright for new stem cell approaches for patients with SCD that will enable curative stem and genetic correction therapies for a greater number of patients suffering from this chronic and debilitating condition. PMID:25696896

  8. What dentists should know about sickle cell disease.

    PubMed

    Devine, Bill P

    2013-11-01

    The medical history should be a communication between the patient and the dentist. A good history will reveal a patient's medical problems,concerns, ideas, and expectations. Understanding medical conditions on a patient's medical history is of up most importance in providing the patient with the best possible standard of care. Sickle cell disease is an inherited blood disorder that affects red blood cells. Normal red blood cells contain hemoglobin A. People with sickle cell disease have red blood cells containing mostly hemoglobin S, an abnormal type of hemoglobin. These mutated sickle cells do not have the smooth motion needed for oxygenation and deoxygenation. One of the main concerns in sickle cell disease is the reversible extreme pain episodes called “sickle cell crisis.”Pain episodes occur when sickle cells clog small vessels, depriving the body of adequate blood and oxygen. Treatment of the sickle cell patient should be a team approach between dentist,patient, and physician. Dental treatments should be conservative and stress free for the patient.Prevention of dental disease and infections are of the up most importance to the sickle cell patient.If your patient has sickle cell disease, know about it and talk to your patient about the disease.Maintaining excellent oral health to decrease the possibility of oral infections will ensure the best care for these patients.Key words: communication, sickle cell disease (SCD), sickle cell anemia (SCA), blood inherited disorder, sickle cell trait, crisis, African Americans, deoxygenation, hemoglobin,supporting dentist, prophylactic antibiotics, and infection. PMID:24400417

  9. What dentists should know about sickle cell disease.

    PubMed

    Devine, Bill P

    2014-05-01

    The medical history should be a communication between the patient and the dentist. A good history will reveal a patient's medical problems, concerns, ideas, and expectations. Understanding medical conditions on a patient's medical history is of upmost importance in providing the patient with the best possible standard of care. Sickle cell disease is an inherited blood disorder that affects red blood cells. Normal red blood cells contain hemoglobin A. People with sickle cell disease have red blood cells containing mostly hemoglobin S, an abnormal type of hemoglobin. These mutated sickle cells do not have the smooth motion needed for oxygenation and deoxygenation. One of the main concerns in sickle cell disease is the reversible extreme pain episodes called "sickle cell crisis." Pain episodes occur when sickle cells clog small vessels, depriving the body of adequate blood and oxygen. Treatment of the sickle cell patient should be a team approach between dentist, patient, and physician, Dental treatments should be conservative and stress free for the patient. Prevention of dental disease and infections are of the upmost importance to the sickle cell patient. If your patient has sickle cell disease, know about it and talk to your patient about the disease. Maintaining excellent oral health to decrease the possibility of oral infections will ensure the best core for these patients. PMID:24988711

  10. Microfluidic approach of Sickled Cell Anemia

    NASA Astrophysics Data System (ADS)

    Abkarian, Manouk; Loiseau, Etienne; Massiera, Gladys

    2012-11-01

    Sickle Cell Anemia is a disorder of the microcirculation caused by a genetic point mutation that produces an altered hemoglobin protein called HbS. HbS self-assembles reversibly into long rope like fibers inside the red blood cells. The resulting distorded sickled red blood cells are believed to block the smallest capillaries of the tissues producing anemia. Despite the large amount of work that provided a thorough understanding of HbS polymerization in bulk as well as in intact red blood cells at rest, no consequent cellular scale approaches of the study of polymerization and its link to the capillary obstruction have been proposed in microflow, although the problem of obstruction is in essence a circulatory problem. Here, we use microfluidic channels, designed to mimic physiological conditions (flow velocity, oxygen concentration, hematocrit...) of the microcirculation to carry out a biomimetic study at the cellular scale of sickled cell vaso-occlusion. We show that flow geometry, oxygen concentration, white blood cells and free hemoglobin S are essential in the formation of original cell aggregates which could play a role in the vaso-occlusion events.

  11. Latest Sickle Cell Research | NIH MedlinePlus the Magazine

    MedlinePlus

    ... and future research efforts include studies of: Genetic factors affecting sickle cell disease symptoms Regulation of hemoglobin production Development of drugs to increase fetal hemoglobin production ...

  12. Hearing Loss and Auditory Function in Sickle Cell Disease

    ERIC Educational Resources Information Center

    Burch-Sims, G.P.; Matlock, V.R.

    2005-01-01

    Sickle cell disease was first reported in 1910 by J. Herrick, and since then, various associated conditions and complications have been described. Sickle cell disease is a hereditary disorder characterized by abnormality of the hemoglobin in the red blood cell. During periods of decreased oxygen tension in the red blood cell's environment, the…

  13. Sickle cell retinopathy: diagnosis and treatment.

    PubMed

    Bonanomi, Maria Teresa Brizzi Chizzotti; Lavezzo, Marcelo Mendes

    2013-10-01

    Hemoglobinopathies are a group of inherited disorders characterized by quantitative or qualitative malformations of hemoglobin (Hb). Some of these diseases present vaso-occlusive phenomena that are responsible for high morbidity in clinical and/or ophthalmologic terms. Diagnosis of hemoglobinopathies is performed exclusively through hemoglobin electrophoresis. From the ophthalmologic perspective, the most important representative of this group of diseases is sickle cell retinopathy, which presents a wide spectrum of fundus manifestations and may even lead to irreversible vision loss if not properly diagnosed and treated. The aim of this review is to present the classification of sickle cell retinopathy and to describe current management and future perspectives for its treatment, taking into consideration the clinical management of these patients. PMID:24232951

  14. Pain management in sickle cell disease.

    PubMed

    Jacob, E

    2001-12-01

    The unpredictable, recurrent, intense, and frequently persistent nature of pain associated with sickle cell disease poses a difficult challenge in terms of management. A wide variability exists in the way painful episodes are managed. Variations in practice reflect different views about the suitability of opioids, the efficacy of parenteral administration, and the risk of dependence on opioids. Consequently, the acute and chronic pain associated with sickle cell disease often is undertreated or inappropriately managed. Although medical staff fear that patients might abuse pain medication and become psychologically dependent, patients are more concerned about the side effects associated with analgesics. Some patients may persuade staff to give them more analgesics, engage in clock-watching, and request specific medications or dosages; these patients often are perceived as manipulative or demanding. However, these patients are knowledgeable about their medications and doses that have worked in the past. Requests for specific medications and dosages should not be interpreted as indications of drug-seeking behavior, but clinicians should communicate with these patients, make accurate assessments, and provide adequate doses of opioid analgesics. The American Pain Society recognized that the undertreatment of pain and inappropriate management of pain in sickle cell disease seem to be common. A Clinical Practice Guideline was developed to provide evidence-based recommendations that could potentially improve pain management. The purpose of this report is to describe the pharmacologic strategies used to manage pain associated with sickle cell disease, examine issues and challenges related to pain management as well as concerns and fears related to addiction, and explain the administration of opioids as recommended by the American Pain Society. PMID:11748547

  15. Intracardiac Thrombosis in Sickle Cell Disease

    PubMed Central

    Nikparvar, Marzieh; Evazi, Mohammad Reza; Eftekhari, Tasnim; Moosavi, Farzaneh

    2016-01-01

    In patients with sickle cell disease, thrombotic microangiopathy is a rare complication. Also in sickle cell disease, intracardiac thrombus formation without structural heart diseases or atrial arrhythmias is a rare phenomenon. We herein describe a 22-year-old woman, who was a known case of sickle cell-βthalassemia, had a history of recent missed abortion, and was admitted with a vaso-occlusive crisis. The patient had manifestations of microangiopathic hemolytic anemia, including laboratory evidence of hemolytic anemia, thrombocytopenia, respiratory distress, fever, jaundice, and abnormal liver function and coagulation tests, accompanied by clot formation on the Eustachian valve of the inferior vena cava in the right atrium and also a long and worm-like thrombus in the right ventricle. Therapeutic plasma exchange improved her clinical condition, and her intracardiac thrombus was completely resolved after 1 week. Echocardiography, as a simple and inexpensive imaging modality, had a significant role in the diagnosis and follow-up of this patient. PMID:26989287

  16. Intracardiac Thrombosis in Sickle Cell Disease.

    PubMed

    Nikparvar, Marzieh; Evazi, Mohammad Reza; Eftekhari, Tasnim; Moosavi, Farzaneh

    2016-03-01

    In patients with sickle cell disease, thrombotic microangiopathy is a rare complication. Also in sickle cell disease, intracardiac thrombus formation without structural heart diseases or atrial arrhythmias is a rare phenomenon. We herein describe a 22-year-old woman, who was a known case of sickle cell-βthalassemia, had a history of recent missed abortion, and was admitted with a vaso-occlusive crisis. The patient had manifestations of microangiopathic hemolytic anemia, including laboratory evidence of hemolytic anemia, thrombocytopenia, respiratory distress, fever, jaundice, and abnormal liver function and coagulation tests, accompanied by clot formation on the Eustachian valve of the inferior vena cava in the right atrium and also a long and worm-like thrombus in the right ventricle. Therapeutic plasma exchange improved her clinical condition, and her intracardiac thrombus was completely resolved after 1 week. Echocardiography, as a simple and inexpensive imaging modality, had a significant role in the diagnosis and follow-up of this patient. PMID:26989287

  17. Light Scattering and Absorption Studies of Sickle Cell Hemoglobin

    NASA Astrophysics Data System (ADS)

    Kim-Shapiro, Daniel

    1997-11-01

    The use of physical techniques has been very important in understanding the pathophysiology of sickle cell disease. In particular, light scattering and absorption studies have been used to measure the kinetics of sickle cell hemoglobin polymerization and depolymerization (melting). The theory of sickle cell polymerization that has been derived and tested by these methods has not only led to an increased understanding of the pathophysiology of the disease but has also led to improved treatment strategies. Sickle cell disease effects about 1 out of 600 people of African descent born in the United States. The disease is caused by a mutant form of hemoglobin (the oxygen transporting molecule in the blood), hemoglobin S (HbS), which differs from normal adult hemoglobin by the substitution of a single amino acid for another. The polymerization of HbS, which occurs under conditions of low oxygen pressure, causes distortion and increased rigidity of the sickle red blood cell that leads to blockage of the capillaries and a host of resulting complications. The disease is associated with tissue damage, severe painful crises and a high degree of mortality. Light scattering studies of purified HbS and whole cells (conducted by F.A. Ferrone, J. Hofrichter, W.A. Eaton, and their associates) have been used to determine the mechanism of HbS polymerization. Polymerization will generally not occur when the hemoglobin is in an oxygen-rich environment. The question is, when HbS is rapidly deoxygenated (as it is when going from the lungs to the tissues) what is the kinetics of polymerization? Photolysis methods were used to rapidly deoxygenate HbS and light scattering was used as a function of time to measure the kinetics of polymerization. Polarized light scattering may be a more effective way to measure polymer content than total intensity light scattering. It was found that no polymerization occurs during a period of time called the delay time and subsequent polymerization occurs

  18. A Case-Based Approach to Transition of Care for Patients With Sickle Cell Disease.

    PubMed

    Noronha, Suzie A; Pulcino, Tiffany L; Akwaa, Frank

    2016-09-01

    Young adults with sickle cell disease must navigate a difficult road to independence once they age out of pediatric care. The anxiety surrounding transition, the challenges of medical complications, and chronic psychosocial stressors are obstacles to a seamless transition to adult medical care. The two cases presented here demonstrate that a team-based, multidisciplinary approach can facilitate a successful transition. PMID:27598355

  19. Mechanism of Testosterone Deficiency in the Transgenic Sickle Cell Mouse

    PubMed Central

    Musicki, Biljana; Zhang, Yuxi; Chen, Haolin; Brown, Terry R.; Zirkin, Barry R.; Burnett, Arthur L.

    2015-01-01

    Testosterone deficiency is associated with sickle cell disease (SCD), but its underlying mechanism is not known. We investigated the possible occurrence and mechanism of testosterone deficiency in a mouse model of human SCD. Transgenic sickle male mice (Sickle) exhibited decreased serum and intratesticular testosterone and increased luteinizing hormone (LH) levels compared with wild type (WT) mice, indicating primary hypogonadism in Sickle mice. LH-, dbcAMP-, and pregnenolone- (but not 22-hydroxycholesterol)- stimulated testosterone production by Leydig cells isolated from the Sickle mouse testis was decreased compared to that of WT mice, implying defective Leydig cell steroidogenesis. There also was reduced protein expression of steroidogenic acute regulatory protein (STAR), but not cholesterol side-chain cleavage enzyme (P450scc), in the Sickle mouse testis. These data suggest that the capacity of P450scc to support testosterone production may be limited by the supply of cholesterol to the mitochondria in Sickle mice. The sickle mouse testis exhibited upregulated NADPH oxidase subunit gp91phox and increased oxidative stress, measured as 4-hydroxy-2-nonenal, and unchanged protein expression of an antioxidant glutathione peroxidase-1. Mice heterozygous for the human sickle globin (Hemi) exhibited intermediate hypogonadal changes between those of WT and Sickle mice. These results demonstrate that testosterone deficiency occurs in Sickle mice, mimicking the human condition. The defects in the Leydig cell steroidogenic pathway in Sickle mice, mainly due to reduced availability of cholesterol for testosterone production, may be related to NADPH oxidase-derived oxidative stress. Our findings suggest that targeting testicular oxidative stress or steroidogenesis mechanisms in SCD offers a potential treatment for improving phenotypic changes associated with testosterone deficiency in this disease. PMID:26023917

  20. The risk of potential thromboembolic, renal and cardiac complications of sickle cell trait.

    PubMed

    Bucknor, Matthew D; Goo, Jeanna S; Coppolino, Michael L

    2014-01-01

    Many complications of sickle cell trait have been well-established, but associations with additional disease states remain controversial. We conducted a retrospective cohort study to examine the frequency of receiving a diagnosis of thromboembolism, pulmonary embolism (PE), ischemic stroke, renal disease (acute, chronic), coronary artery disease (CAD) and congestive heart failure (CHF) in patients with sickle cell trait. A total of 13,964 adult African Americans registered in the Kaiser Permanente Northern California (KPNC) health system (Oakland, CA, USA), were included based on laboratory and diagnostic code data for the years 1995-2008: 2642 with sickle cell trait, 11,183 with normal hemoglobin (Hb) and 139 with sickle cell disease. Disease outcomes were obtained from coded diagnoses. The adjusted relative risk of PE and chronic kidney disease in sickle cell trait patients compared to patients with normal Hb were 1.37 [95% confidence interval (CI) 1.07-1.75] and 1.13 (95% CI 1.03-1.23), respectively. There were no other significant differences in the outcomes for sickle cell trait patients compared to patients with normal Hb. PMID:24099594

  1. Sickle erythrocytes inhibit human endothelial cell DNA synthesis

    SciTech Connect

    Weinstein, R.; Zhou, M.A.; Bartlett-Pandite, A.; Wenc, K. )

    1990-11-15

    Patients with sickle cell anemia experience severe vascular occlusive phenomena including acute pain crisis and cerebral infarction. Obstruction occurs at both the microvascular and the arterial level, and the clinical presentation of vascular events is heterogeneous, suggesting a complex etiology. Interaction between sickle erythrocytes and the endothelium may contribute to vascular occlusion due to alteration of endothelial function. To investigate this hypothesis, human vascular endothelial cells were overlaid with sickle or normal erythrocytes and stimulated to synthesize DNA. The erythrocytes were sedimented onto replicate monolayers by centrifugation for 10 minutes at 17 g to insure contact with the endothelial cells. Incorporation of 3H-thymidine into endothelial cell DNA was markedly inhibited during contact with sickle erythrocytes. This inhibitory effect was enhanced more than twofold when autologous sickle plasma was present during endothelial cell labeling. Normal erythrocytes, with or without autologous plasma, had a modest effect on endothelial cell DNA synthesis. When sickle erythrocytes in autologous sickle plasma were applied to endothelial monolayers for 1 minute, 10 minutes, or 1 hour and then removed, subsequent DNA synthesis by the endothelial cells was inhibited by 30% to 40%. Although adherence of sickle erythrocytes to the endothelial monolayers was observed under these experimental conditions, the effect of sickle erythrocytes on endothelial DNA synthesis occurred in the absence of significant adherence. Hence, human endothelial cell DNA synthesis is partially inhibited by contact with sickle erythrocytes. The inhibitory effect of sickle erythrocytes occurs during a brief (1 minute) contact with the endothelial monolayers, and persists for at least 6 hours of 3H-thymidine labeling.

  2. Anesthesia for the parturient with sickle cell disease.

    PubMed

    Danzer, B I; Birnbach, D J; Thys, D M

    1996-11-01

    A brief overview of the genetics, transmission, pathophysiology, and clinical manifestations of sickle cell disease is presented. Issues and management dilemmas specific to the parturient with sickle cell disease are discussed, along with recommendations regarding preoperative, operative, and postoperative care. Three case reports from our institution are used to illustrate problems that may occur in these patients. PMID:8910185

  3. African American Students' Awareness of Sickle Cell Disease.

    ERIC Educational Resources Information Center

    Ogamdi, Simon O.

    1994-01-01

    Reports a study that investigated knowledge level about sickle cell disease among students at a predominantly black university. Survey results indicated the students most directly concerned did not well understand the basic facts about sickle cell disease. Most students could not recall whether they had ever been tested. (SM)

  4. Newborn Sickle Cell Screening: Benefits and Burdens Realized.

    ERIC Educational Resources Information Center

    Rowley, Peter T.; Huntzinger, Donna J.

    1983-01-01

    Follow-up data on a program that screened 17 newborns for sickle cell anemia suggests that in order to derive maximum benefit from such screening physicians need to better understand the differential diagnosis, treatment, and inheritance of sickle cell disease, and individual guidance must be provided to families. (GC)

  5. Etiology of Strokes in Children with Sickle Cell Anemia

    ERIC Educational Resources Information Center

    DeBaun, Michael R.; Derdeyn, Colin P.; McKinstry, Robert C., III

    2006-01-01

    The most devastating complication of sickle cell anemia is cerebral infarction, affecting [approximately]30% of all individuals with sickle cell anemia. Despite being one of the most common causes of stroke in infants and children, the mechanism of cerebral infarction in this population has not been extensively studied and is poorly understood.…

  6. Anesthesia for sickle cell disease and congenital myopathy in combination.

    PubMed

    Fanning, Rebecca; O'Donnell, Brian; Lynch, Brian; Stephens, Michael; O'Donovan, Frances

    2006-08-01

    We report on the perioperative management of anesthesia and analgesia in a child with sickle cell disease and a congenital myopathy, presenting for corrective orthopedic surgery. The case illustrates two valuable points of interest: the many benefits of regional anesthesia in complex medical cases and the successful use of tourniquets in children with sickle cell disease. PMID:16884472

  7. Management of the patient with sickle cell disease.

    PubMed

    Rausch, M; Pollard, D

    1998-01-01

    Sickle cell disease is a group of genetic disorders of hemoglobin synthesis, of which sickle cell anemia is the most severe. In the United States, sickle cell disease primarily affects persons of African-American and Hispanic origin. An estimated 50,000 Americans have the disease, and approximately 2.5 million persons carry the sickle cell trait. The primary pathophysiologic features are chronic hemolysis and vaso-occlusion. This disease is recurrent and unpredictable, causing considerable physiologic and psychologic stress. This article provides an overview of the disease and addresses the role of the infusion nurse in the care and support of the patient with sickle cell disease in the hospital and home setting. PMID:9515479

  8. Oral and Dental Considerations in Management of Sickle Cell Anemia.

    PubMed

    Acharya, Sonu

    2015-01-01

    Sickle cell anemia is a genetic disease that primarily affects the black population. This anemia is due to a homozygous state of the abnormal hemoglobin S. An alteration occurs on the DNA molecule involving the substitution of the amino acid valine for glutamic acid at the sixth position on the beta polypeptide chain. This biochemical variation on the DNA molecule creates a physiological change that causes sickle-shaped red blood cells to be produced. The sickle-shaped cells are the result of the hemoglobin S being deoxygenated. This case report presents a case of 16-year-old female with sickle cell disease and its dental management. How to cite this article: Acharya S. Oral and Dental Considerations in Management of Sickle Cell Anemia. Int J Clin Pediatr Dent 2015;8(2):141-144. PMID:26379384

  9. The ethnic distribution of sickle cell disease in Sudan.

    PubMed

    Sabahelzain, Majdi Mohammed; Hamamy, Hanan

    2014-01-01

    Sickle cell disease (SCD) is one of the most common inherited disorders of haemoglobin in Africa and it is expected that sickle cell trait varies in frequency in different areas in Sudan. An extensive literature search was carried out accessing the US National Library of Medicine, the WHO Eastern Mediterranean Region resources, the Catalogue for Transmission Genetics in Arabs and papers and documents published in Sudan that included data on the prevalence of sickle cell anaemia and trait. Rates of SCA and trait varied in different areas in Sudan with the highest rates reported from Western and Eastern Sudan where one in every 123 children born in Messeryia tribe in Western Sudan is at risk of having SCD. High consanguinity rates and malaria endemicity are strong related factors with sickle cell gene in Sudan. This review will present what is known about the rates of sickle cell gene in different ethnic groups in Sudan. PMID:25360197

  10. Oral and Dental Considerations in Management of Sickle Cell Anemia

    PubMed Central

    2015-01-01

    ABSTRACT Sickle cell anemia is a genetic disease that primarily affects the black population. This anemia is due to a homozygous state of the abnormal hemoglobin S. An alteration occurs on the DNA molecule involving the substitution of the amino acid valine for glutamic acid at the sixth position on the beta polypeptide chain. This biochemical variation on the DNA molecule creates a physiological change that causes sickle-shaped red blood cells to be produced. The sickle-shaped cells are the result of the hemoglobin S being deoxygenated. This case report presents a case of 16-year-old female with sickle cell disease and its dental management. How to cite this article: Acharya S. Oral and Dental Considerations in Management of Sickle Cell Anemia. Int J Clin Pediatr Dent 2015;8(2):141-144. PMID:26379384

  11. The ethnic distribution of sickle cell disease in Sudan

    PubMed Central

    Sabahelzain, Majdi Mohammed; Hamamy, Hanan

    2014-01-01

    Sickle cell disease (SCD) is one of the most common inherited disorders of haemoglobin in Africa and it is expected that sickle cell trait varies in frequency in different areas in Sudan. An extensive literature search was carried out accessing the US National Library of Medicine, the WHO Eastern Mediterranean Region resources, the Catalogue for Transmission Genetics in Arabs and papers and documents published in Sudan that included data on the prevalence of sickle cell anaemia and trait. Rates of SCA and trait varied in different areas in Sudan with the highest rates reported from Western and Eastern Sudan where one in every 123 children born in Messeryia tribe in Western Sudan is at risk of having SCD. High consanguinity rates and malaria endemicity are strong related factors with sickle cell gene in Sudan. This review will present what is known about the rates of sickle cell gene in different ethnic groups in Sudan. PMID:25360197

  12. Lactate dehydrogenase in sickle cell disease.

    PubMed

    Stankovic Stojanovic, Katia; Lionnet, François

    2016-07-01

    Lactate dehydrogenase (LDH) activity is elevated in many pathological states. Interest in LDH activity in sickle cell disease (SCD) has developed out of an increased comprehension of the pathophysiological process and the clinical course of the disease. Elevated LDH activity in SCD comes from various mechanisms, especially intravascular hemolysis, as well as ischemia-reperfusion damage and tissular necrosis. Intravascular hemolysis is associated with vasoconstriction, platelet activation, endothelial damage, and vascular complications. LDH has been used as a diagnostic and prognostic factor of acute and chronic complications. In this review we have evaluated the literature where LDH activity was examined during steady-state or acute conditions in SCD. PMID:27138446

  13. Perioperative Management in Sickle Cell Disease.

    PubMed

    Paschal, Rita D

    2016-09-01

    Many patients with sickle cell disease (SCD) will require surgical intervention during the course of their lifetime. Common surgeries include orthopedic and abdominal procedures. Perioperative complications occur commonly and can be related to the surgical procedure or the underlying hemoglobinopathy. The complication rate may be reduced by preoperative optimization of disease and careful attention to the patient in the postoperative period. This review examines the perioperative management of patients with SCD. For patients undergoing both elective and emergent surgery, attempts should be made to coordinate care with an SCD specialist. PMID:27598361

  14. Clinical biomarkers in sickle cell disease

    PubMed Central

    Damanhouri, Ghazi A.; Jarullah, Jummanah; Marouf, Samy; Hindawi, S.I.; Mushtaq, Gohar; Kamal, Mohammad A.

    2014-01-01

    Sickle cell disease (SCD) is a hereditary blood disorder caused by a single gene. Various blood and urine biomarkers have been identified in SCD which are associated with laboratory and medical history. Biomarkers have been proven helpful in identifying different interconnected disease-causing mechanisms of SCD, including hypercoagulability, hemolysis, inflammation, oxidative stress, vasculopathy, reperfusion injury and reduced vasodilatory responses in endothelium, to name just a few. However, there exists a need to establish a panel of validated blood and urine biomarkers in SCD. This paper reviews the current contribution of biochemical markers associated with clinical manifestation and identification of sub-phenotypes in SCD. PMID:25561879

  15. Anisotropic light scattering of individual sickle red blood cells

    NASA Astrophysics Data System (ADS)

    Kim, Youngchan; Higgins, John M.; Dasari, Ramachandra R.; Suresh, Subra; Park, YongKeun

    2012-04-01

    We present the anisotropic light scattering of individual red blood cells (RBCs) from a patient with sickle cell disease (SCD). To measure light scattering spectra along two independent axes of elongated-shaped sickle RBCs with arbitrary orientation, we introduce the anisotropic Fourier transform light scattering (aFTLS) technique and measured both the static and dynamic anisotropic light scattering. We observed strong anisotropy in light scattering patterns of elongated-shaped sickle RBCs along its major axes using static aFTLS. Dynamic aFTLS analysis reveals the significantly altered biophysical properties in individual sickle RBCs. These results provide evidence that effective viscosity and elasticity of sickle RBCs are significantly different from those of the healthy RBCs.

  16. Hydrodynamics of Hemostasis in Sickle-Cell Disease

    NASA Astrophysics Data System (ADS)

    Cohen, S. I. A.; Mahadevan, L.

    2013-03-01

    Vaso-occlusion, the stoppage of blood flow in sickle-cell disease, is a complex dynamical process spanning multiple time and length scales. Motivated by recent ex vivo microfluidic measurements of hemostasis using blood from sickle-cell patients, we develop a multiphase model that couples the kinetics and hydrodynamics of a flowing suspension of normal and sickled cells in a fluid. We use the model to derive expressions for the cell velocities and concentrations that quantify the hydrodynamics of hemostasis, and provide simple criteria as well as a phase diagram for occlusion, consistent with our simulations and earlier observations.

  17. Numerical Simulation of Sickle Cell Blood Flow in the Microcirculation

    NASA Astrophysics Data System (ADS)

    Berger, Stanley A.; Carlson, Brian E.

    2001-11-01

    A numerical simulation of normal and sickle cell blood flow through the transverse arteriole-capillary microcirculation is carried out to model the dominant mechanisms involved in the onset of vascular stasis in sickle cell disease. The transverse arteriole-capillary network is described by Strahler's network branching method, and the oxygen and blood transport in the capillaries is modeled by a Krogh cylinder analysis utilizing Lighthill's lubrication theory, as developed by Berger and King. Poiseuille's law is used to represent blood flow in the arterioles. Applying this flow and transport model and utilizing volumetric flow continuity at each network bifurcation, a nonlinear system of equations is obtained, which is solved iteratively using a steepest descent algorithm coupled with a Newton solver. Ten different networks are generated and flow results are calculated for normal blood and sickle cell blood without and with precapillary oxygen loss. We find that total volumetric blood flow through the network is greater in the two sickle cell blood simulations than for normal blood owing to the anemia associated with sickle cell disease. The percentage of capillary blockage in the network increases dramatically with decreasing pressure drop across the network in the sickle cell cases while there is no blockage when normal blood flows through simulated networks. It is concluded that, in sickle cell disease, without any vasomotor dilation response to decreasing oxygen concentrations in the blood, capillary blockage will occur in the microvasculature even at average pressure drops across the transverse arteriole-capillary networks.

  18. Investigational agents for sickle cell disease.

    PubMed

    Okpala, Iheanyi

    2006-08-01

    Developments in the treatment of sickle cell disease (SCD) have not kept pace with advances in understanding the pathophysiology of this haemoglobinopathy. Drugs undergoing preclinical and clinical assessment for the therapy of these globin gene disorders are discussed in this article. Beginning with investigational agents for treatment of SCD as a whole, the discussion proceeds to drugs being developed for specific manifestations or iatrogenic complications. Despite being licensed in the USA, the prototype antisickling agent, hydroxycarbamide, has not attained worldwide clinical use because of concerns about long-term toxicity. The less toxic decitabine, which (as with hydroxycarbamide) increases fetal haemoglobin level, cannot be administered orally; therefore, the search continues for effective and safe antisickling drugs that can be taken orally. The naturally occurring benzaldehyde 5-hydroxymethyl-2-furfural has shown promising antisickling properties in vitro, and when administered to transgenic sickle mice. These effects are surpassed by the new synthetic pyridyl derivatives of benzaldehyde. Studies in humans with SCD are required to assess the clinical efficacy of these benzaldehydes. Niprisan, another antisickling agent with significant clinical efficacy and an attractive safety profile, is undergoing further development. The prospects of antiadhesion therapy in SCD are demonstrated by a recombinant protein containing the Fc fragment of IgG fused to the natural ligand for selectins: the conjugate significantly inhibited blood vessel occlusion in transgenic sickle mice. Whereas the orally administrable iron-chelating agent deferasirox is likely to increasingly take the place of desferioxamine (which can only be given parenterally), effective treatment of priapism in SCD remains a distressing challenge. PMID:16859388

  19. Sickle cell disease: selected aspects of pathophysiology.

    PubMed

    Alexy, T; Sangkatumvong, S; Connes, P; Pais, E; Tripette, J; Barthelemy, J C; Fisher, T C; Meiselman, H J; Khoo, M C; Coates, T D

    2010-01-01

    Sickle cell disease (SCD), a genetically-determined pathology due to an amino acid substitution (i.e., valine for glutamic acid) on the beta-chain of hemoglobin, is characterized by abnormal blood rheology and periods of painful vascular occlusive crises. Sickle cell trait (SCT) is a typically benign variant in which only one beta chain is affected by the mutation. Although both SCD and SCT have been the subject of numerous studies, information related to neurological function and transfusion therapy is still incomplete: an overview of these areas is presented. An initial section provides pertinent background information on the pathology and clinical significance of these diseases. The roles of three factors in the clinical manifestations of the diseases are then discussed: hypoxia, autonomic nervous system regulation and blood rheology. The possibility of a causal relationship between these three factors and sudden death is also examined. It is concluded that further studies in these specific areas are warranted. It is anticipated that the outcome of such research is likely to provide valuable insights into the pathophysiology of SCD and SCT and will lead to improved clinical management and enhanced quality of life. PMID:20364061

  20. The Traveler with Sickle Cell Disease

    PubMed Central

    Willen, Shaina M.; Thornburg, Courtney D.; Lantos, Paul M.

    2014-01-01

    Background Sickle cell disease (SCD) is the most common genetic disease among persons with African ancestry. This article provides a background on SCD and reviews many important aspects of travel preparation in this population. Methods The medical literature was searched for studies about travel-associated preparedness and complications in individuals with SCD. Topics researched included malaria, bacterial infections, vaccinations, dehydration, altitude, air travel, and travel preparedness. Results There is very little published literature that specifically addresses the risks faced by travelers with SCD. Rates of medical complications during travel appear to be high. There is a body of literature that describes complications of SCD in indigenous populations, particularly within Africa. The generalizability of these data to a traveler are uncertain. Combining these sources of data and the broader medical literature we address major travel-related questions that may face a provider preparing an individual with SCD for safe travel. Conclusions Travelers with SCD face considerable medical risks when traveling to developing tropical countries; these include malaria, bacterial infections, hypovolemia, and sickle cell-associated vaso-occlusive crises. Frank counseling about risks, vigilant preventative measures, and contingency planning for illness while abroad are necessary parts of the pre-travel visit for individuals with SCD. PMID:24947546

  1. Pathophysiological aspects of sickle cell vaso-occlusion

    SciTech Connect

    Nagel, R.L.

    1987-01-01

    This book contains over 30 selections. Some of the titles are: An Animal Model for Sickle Cell Vaso-Occlusion: A Study Using NMR and Technetium Imaging; Sickle-Cell Vaso-Occlusion in an Animal Model: Intravital Microscopy and Radionuclide Imaging of Selective Sequestration of Dense Cells; Magnetic Resonance Imaging, Percentage of Dense Cells, and Serum Prostanoids as Tools for Objective Assessment of Pain Crisis: A Preliminary Report; and Painful Crisis and Dense Echinocytes: Effects of Hydration and Vasodilators.

  2. Phytomedicines and nutraceuticals: alternative therapeutics for sickle cell anemia.

    PubMed

    Imaga, Ngozi Awa

    2013-01-01

    Sickle cell anemia is a genetically inherited disease in which the "SS" individual possesses an abnormal beta globin gene. A single base substitution in the gene encoding the human β -globin subunit results in replacement of β 6 glutamic acid by valine, leading to the devastating clinical manifestations of sickle cell disease. This substitution causes drastic reduction in the solubility of sickle cell hemoglobin (HbS) when deoxygenated. Under these conditions, the HbS molecules polymerize to form long crystalline intracellular mass of fibers which are responsible for the deformation of the biconcave disc shaped erythrocyte into a sickle shape. First-line clinical management of sickle cell anemia include, use of hydroxyurea, folic acid, amino acids supplementation, penicillinprophylaxis, and antimalarial prophylaxis to manage the condition and blood transfusions to stabilize the patient's hemoglobin level. These are quite expensive and have attendant risk factors. However, a bright ray of hope involving research into antisickling properties of medicinal plants has been rewarding. This alternative therapy using phytomedicines has proven to not only reduce crisis but also reverse sickling (in vitro). The immense benefits of phytomedicines and nutraceuticals used in the management of sickle cell anemia are discussed in this paper. PMID:23476125

  3. Phytomedicines and Nutraceuticals: Alternative Therapeutics for Sickle Cell Anemia

    PubMed Central

    Imaga, Ngozi Awa

    2013-01-01

    Sickle cell anemia is a genetically inherited disease in which the “SS” individual possesses an abnormal beta globin gene. A single base substitution in the gene encoding the human β-globin subunit results in replacement of β6 glutamic acid by valine, leading to the devastating clinical manifestations of sickle cell disease. This substitution causes drastic reduction in the solubility of sickle cell hemoglobin (HbS) when deoxygenated. Under these conditions, the HbS molecules polymerize to form long crystalline intracellular mass of fibers which are responsible for the deformation of the biconcave disc shaped erythrocyte into a sickle shape. First-line clinical management of sickle cell anemia include, use of hydroxyurea, folic acid, amino acids supplementation, penicillinprophylaxis, and antimalarial prophylaxis to manage the condition and blood transfusions to stabilize the patient's hemoglobin level. These are quite expensive and have attendant risk factors. However, a bright ray of hope involving research into antisickling properties of medicinal plants has been rewarding. This alternative therapy using phytomedicines has proven to not only reduce crisis but also reverse sickling (in vitro). The immense benefits of phytomedicines and nutraceuticals used in the management of sickle cell anemia are discussed in this paper. PMID:23476125

  4. Moderate chronic pain, weight and dietary intake in African-American adult patients with sickle cell disease.

    PubMed Central

    Pells, Jennifer J.; Presnell, Katherine E.; Edwards, Christopher L.; Wood, Mary; Harrison, Myleme O.; DeCastro, Laura; Johnson, Stephanie; Feliu, Miriam; Canada, Stephanie; Jonassaint, Jude C.; Barker, Camela; Leach-Beale, Brittani; Mathis, Markece J.; Applegate, Katherine; Holmes, Anita; Byrd, Goldie; Robinson, Elwood

    2005-01-01

    In this exploratory study, we evaluated weight status and dietary intake patterns during painful episodes in adult patients with SCD. Specifically, we explored the relation between pain severity and body mass index (BMI), and we tested the hypothesis that dietary intake would be reduced and dietary content altered during periods of increased pain. We conducted an analysis of survey data from 62 patients involved in a longitudinal evaluation of the relationship of medical and psychosocial factors to pain. Nearly half of patients with SCD were overweight, and 20% were obese. BMI was positively related to interference associated with pain. Although BMI was not statistically associated with reported pain severity, >40% of patients reported that they perceived their pain to be affected by their weight. Less than 20% of patients reported that they perceived that their weight affected their pain. Regarding dietary patterns, the majority of patients reported eating less during episodes of pain and significantly decreasing their intake of fats and proteins. We conclude that there is a need to better understand the relation among weight, dietary patterns and pain in patients with SCD in order to provide patients with accurate education and effective treatment recommendations for managing their disease and reducing current and future risks of lifestyle and disease-related morbidities. PMID:16396054

  5. Sickle cell disease, vasculopathy, and therapeutics.

    PubMed

    Kassim, Adetola A; DeBaun, Michael R

    2013-01-01

    Sickle cell disease (SCD) is caused by a mutation in both beta globin genes, resulting in chronic hemolysis and multiorgan disease that ultimately leads to premature death. Although hemoglobin S (HbS) polymerization and vaso-occlusion are central to the pathogenesis of SCD, overlapping pathways implicated in SCD-related endothelial dysfunction include hemolysis, defects in nitric oxide metabolism, ischemia-reperfusion injury, oxidative stress, increased cell-to-cell adhesion, and proinflammatory and coagulation mediators. Progression of organ-specific vasculopathy often precedes organ dysfunction and may provide targets for therapeutic intervention. SCD-related vasculopathies include, but are not limited to, moyamoya that often precedes cerebral infarcts or hemorrhage, proliferative retinopathy prior to loss of eyesight, pulmonary vasculopathy associated with pulmonary hypertension, and renal vasculopathy prior to the onset of chronic renal disease. This review evaluates evidence that SCD vasculopathy is a harbinger for organ dysfunction and reviews the potential for targeted antivasculopathy therapies. PMID:23190149

  6. What Is Sickle Cell Disease?

    MedlinePlus

    ... have it? For more information... Acknowledgments Concept 15 : DNA and proteins are key molecules of the cell nucleus. Learn the basic chemistry of DNA and proteins. Concept 27 : Mutations are changes in ...

  7. Infection in sickle cell disease: a review.

    PubMed

    Booth, Catherine; Inusa, Baba; Obaro, Stephen K

    2010-01-01

    Infection is a significant contributor to morbidity and mortality in sickle cell disease (SCD). The sickle gene confers an increased susceptibility to infection, especially to certain bacterial pathogens, and at the same time infection provokes a cascade of SCD-specific pathophysiological changes. Historically, infection is a major cause of mortality in SCD, particularly in children, and it was implicated in 20-50% of deaths in prospective cohort studies over the last 20 years. Worldwide, it remains the leading cause of death, particularly in less developed nations. In developed countries, measures to prevent and effectively treat infection have made a substantial contribution to improvements in survival and quality of life, and are continually being developed and extended. However, progress continues to lag in less developed countries where the patterns of morbidity and mortality are less well defined and implementation of preventive care is poor. This review provides an overview of how SCD increases susceptibility to infections, the underlying mechanisms for susceptibility to specific pathogens, and how infection modifies the outcome of SCD. It also highlights the challenges in reducing the global burden of mortality in SCD. PMID:19497774

  8. Psychosocial Interventions for Children and Adolescents with Sickle Cell Disease (SCD).

    ERIC Educational Resources Information Center

    Collins, Marietta; Kaslow, Nadine; Doepke, Karla; Eckman, James; Johnson, Marjorie

    1998-01-01

    Reviews the existing literature on psychosocial interventions for children and adolescents with sickle cell disease and suggests some developmentally appropriate modifications for approaches designed for adults. Particular attention is paid to nonpharmacological pain management strategies that include coping skill training, educational programs,…

  9. Proceedings of the First National Sickle Cell Educational Symposium (May 1976, St. Louis, Missouri).

    ERIC Educational Resources Information Center

    Public Health Service (DHEW), Arlington, VA.

    This conference was organized around presentations about the cases of an adult and a pediatric sickle cell anemia patient. Following the presentations of the patients' case histories, and clinical and laboratory findings, the cases were discussed by specialists from various areas of expertise. Among the perspectives offered were those of internal…

  10. The effects of zinc status on early growth in infants with sickle cell disease

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Growth failure, maturational delay, and alterations in body composition occur in older children and adults with Sickle Cell Disease (SCD). Poor nutritional status, specifically zinc deficiency, has been widely implicated, although infants with SCD have not been studied. We determined zinc status in ...

  11. Immunological studies in sickle cell-beta zero thalassemia. Comparison with sickle cell anemia.

    PubMed

    Donadi, E A; Falcao, R P

    1989-01-01

    Despite genetic differences, patients with S-beta zero thalassemia or sickle cell anemia present several clinical and hematological similarities. In this study we present evidence that they can also show similar immunological profiles. Both hemoglobinopathies exhibited increased total lymphocyte counts as well as B, CD4 and CD8 lymphocyte subset counts. The CD4/CD8 ratio and the determination of the activity of antibody-dependent cellular cytotoxicity were within the normal range for patients with both diseases. The levels of IgG and IgA were also increased for both conditions, but the amount of factor B of the complement system was elevated only in sickle cell anemia patients. PMID:2628234

  12. Psychosocial impact of sickle cell disorder: perspectives from a Nigerian setting

    PubMed Central

    2010-01-01

    Sickle Cell Disorder is a global health problem with psychosocial implications. Nigeria has the largest population of people with sickle cell disorder, with about 150,000 births annually. This study explored the psychosocial impact of sickle cell disorder in 408 adolescents and adults attending three hospitals in Lagos, Nigeria. A questionnaire was designed for the study, with some of commonly described areas of psychosocial impact including general public perceptions and attitudes, education, employment, and healthcare issues, and emotional responses. The majority of participants thought that society in general had a negative image of SCD, and reported negative perceptions and attitudes. Some issues in education, employment, and healthcare were expressed, however these were in the minority of cases. The results also showed that depressive feelings were experienced in almost half the study population, even though feelings of anxiety or self-hate were uncommon. Clinical implications of these findings are considered. PMID:20170540

  13. Novel therapies in sickle cell disease.

    PubMed

    Ataga, Kenneth I

    2009-01-01

    Despite an increased understanding of the pathophysiology of sickle cell disease (SCD), there remains a paucity of available agents for the prevention and treatment of specific SCD-related complications. Recently, there has been significant progress in the development of novel drugs for this disease. These agents, which increase the production of fetal hemoglobin, improve red blood cell hydration, increase the availability of nitric oxide and possess anti-inflammatory effects, are in varying stages of clinical development. With the complex pathophysiology of SCD, it is unlikely that a single agent will prevent or treat all the sequelae of this disease. As a result, patients may benefit from treatment with a combination of agents that possess different mechanisms of action. This overview discusses selected novel agents that appear promising in SCD. PMID:20008182

  14. [Cardiopulmonary complications in sickle cell anemia].

    PubMed

    Rojas-Jiménez, Sara; Lopera-Valle, Johan; Yabur-Espítia, Mirna

    2013-01-01

    Sickle cell anemia, considered the most prevalent genetic disease among African Americans, is a disease with autosomal recessive inheritance pattern, characterized by the production of hemoglobin S. This abnormal protein polymerizes and facilitates the formation of fibrillar aggregates that alters the erythrocyte morphology. The stiffness of the red blood cells hinders the adequate transit across microcirculation, leading to hemolysis and increased blood viscosity, which ease thrombogenesis and vascular occlusion, resulting in tissue ischemia and microinfarcts. This disease has a high rate of morbidity and mortality, especially in the first three years of life, when a rapid diagnosis and appropriate treatment are essential. Cardiovascular complications such as heart failure and pulmonary hypertension may develop independently, and each one contributes to increased mortality, being the combination of both risk factors, an important aggravating factor for prognosis and a determinant indicator of mortality. PMID:24215682

  15. Incidence, effects, and management of sickle cell disease in Brazil.

    PubMed

    Salzano, F M

    1985-01-01

    Forty-five percent of the 121 million persons who live in Brazil have morphological indications of Black admixture, and 5-6% of them are carriers of the hemoglobin S gene. But even in persons identified as white, the hemoglobin AS genotype is present in about 1%. The total number of people with sickle cell disease is estimated as 45,000. The present analysis is based in 409 patients studied in Rio de Janeiro. The observed frequency of deformities of the vertebrae (18%), bone infarcts (12%), and gnathopathy (4%) was lower than those found in any other series. The proportion of adults with splenomegaly was also lower than that of other studies. Chest pains were more frequent in males, while bone or joint pains and splenic sequestration crises seemed to be more common in females. Effects of the disease in the viability and fertility of these patients were quantified. Fetal loss in 67 pregnancies was 48%. Hemoglobin F levels showed a clear age effect, and higher levels were associated with a more benign course of the disease. Information about the services for prevention and treatment of sickle cell disease that exist in Brazil and one place in Venezuela, is provided. Treatment is only symptomatic in 12 centers, while in São Paulo piracetam is being successfully used in the treatment of crises. A brief overview about the current Brazilian studies on this disease is also presented. PMID:2416230

  16. Progress in Early Diagnosis of Sickle Cell Disease

    ERIC Educational Resources Information Center

    Pearson, Howard A.

    1971-01-01

    Discusses the basis of sickle cell Anemia, including: a description of the diseased blood, genetic implications, recognition of symptoms in infancy, the need for implementation of wide screening procedures, and the future prospects of a cure. (AJ)

  17. Nursing Diagnoses and Caring for Patients with Sickle Cell Disease.

    ERIC Educational Resources Information Center

    London, Fran

    1990-01-01

    This continuing education article is designed to teach nurses to describe sickle cell anemia, identify complications, specify signs and symptoms, and describe nursing interventions. It concludes with a multiple-choice test. (SK)

  18. What Are the Signs and Symptoms of Sickle Cell Disease?

    MedlinePlus

    ... transfusions may also have heart damage from iron overload . (See transfusion management.) Pulmonary Hypertension In adolescents and ... blood transfusions may develop liver damage from iron overload . Leg Ulcers Sickle cell ulcers are sores that ...

  19. Resilience in siblings of children with sickle cell disease.

    PubMed

    Royal, C D; Headings, V E; Molnar, E T; Ampy, F R

    1995-09-01

    This pilot study was conducted to identify factors responsible for promoting resilience in siblings of children with sickle cell disease. Twenty siblings (10-17 years of age) of children (5-13 years) with sickle cell disease were selected from the Pediatric Clinic of Howard University Center for Sickle Cell Disease. The siblings responded to questionnaires, and the data obtained was analyzed by chi-square for association. The results indicated that age, birth order, and gender had no effect on resilience in the siblings. However, family size, number of parents in the home, sibling's knowledge of the illness, degree of morbidity of the illness, socioeconomic status of the family, and parents' attitudes and childrearing practices were all found to affect resilience. These findings provide additional insight into the psychosocial aspects of, and genetic counseling for sickle cell disease, as well as for other chronic genetic disorders. PMID:24234370

  20. Duodenal perforation: an unusual complication of sickle cell anemia.

    PubMed

    Acıpayam, Can; Aldıç, Güliz; Akçora, Bülent; Çelikkaya, Mehmet Emin; Aşkar, Hasan; Dorum, Bayram Ali

    2014-01-01

    Duodenal perforation in childhood is a rare condition with a high mortality rate if not treated surgically. Primary gastroduodenal perforation is frequently associated with peptic ulcer and exhibits a positive family history. Helicobacter pylorus is the most significant agent. Secondary gastroduodenal perforation may be a finding of specific diseases, such as Crohn disease, or more rarely may be associated with diseases such as cystic fibrosis or sickle cell anemia. A 14-year-old boy presented with abdominal and back pain. The patient was operated on for acute abdomen and diagnosed with duodenal perforation. Helicobacter pylorus was negative. There was no risk factor to account for duodenal perforation other than sickle cell anemia. Surgical intervention was successful and without significant sequelae. Duodenal perforation is a rare entity described in patients with sickle cell anemia. To our knowledge, this is the first report of duodenal perforation in a patient sickle cell anemia. PMID:25422692

  1. Sickle cell hospital unit: a disease-specific model.

    PubMed

    Adams-Graves, Patricia; Ostric, Elizabeth J; Martin, Mary; Richardson, Pat; Lewis, James B

    2008-01-01

    American urban hospitals often serve large populations of sickle cell disease (SCD) patients. Those hospitals that choose to implement an adult SCD-specific inpatient unit have the opportunity to acquire multiple operational benefits. Such units may ultimately reduce patient morbidity and mortality; improve timely access to quality medical care in a cost-effective manner; reduce overcrowding in the emergency department; and increase patient, family, physician, and payer satisfaction. SCD is a serious, painful, genetic blood disorder that affects a growing population of adults in the United States. A single mistake in the gene that codes for hemoglobin causes crescent-shaped red blood cells that are sticky, are stiff, and have a short life span. These cells cause blockages, tremendous pain brought on by lack of oxygen in the muscles, organ damage, stroke, and problems with infections. The cells' short life span often results in anemia. The unpredictable pain event-sickle cell disease with crisis-is the most common reason for presentation to the emergency department and for hospital admission. For many SCD patients, the emergency department process and the general, overly conservative approach to pain relief lead to a delay in treatment and prolong needless suffering. Regional Medical Center at Memphis (Tennessee) established an SCD unit and developed an inpatient care delivery model that decreases the burden of caring for SCD patients on its busy emergency department, improves SCD patients' satisfaction and access to timely quality care, and reduces the needless pain and suffering of SCD patients. This SCD model may be replicated in large urban hospitals with a daily SCD patient census of five or more. PMID:18856136

  2. Lung function in sickle cell disease.

    PubMed

    Koumbourlis, Anastassios C

    2014-03-01

    Although some of the most severe complications of Sickle Cell Disease (SCD) tend to be acute and severe (e.g. acute chest syndrome, stroke etc.), the chronic ones can be equally debilitating. Prominent among them is the effect that the disease has on lung growth and function. For many years the traditional teaching has been that SCD is associated with the development of a restrictive lung defect. However, there is increasing evidence that this is not a universal finding and that at least during childhood and adolescence, the majority of the patients have a normal or obstructive pattern of lung function. The following article reviews the current knowledge on the effects of SCD on lung growth and function. Special emphasis is given to the controversies among the published articles in the literature and discusses possible causes for these discrepancies. PMID:24268618

  3. Complications associated with sickle cell trait: a brief narrative review.

    PubMed

    Tsaras, Geoffrey; Owusu-Ansah, Amma; Boateng, Freda Owusua; Amoateng-Adjepong, Yaw

    2009-06-01

    Sickle cell trait occurs in approximately 300 million people worldwide, with the highest prevalence of approximately 30% to 40% in sub-Saharan Africa. Long considered a benign carrier state with relative protection against severe malaria, sickle cell trait occasionally can be associated with significant morbidity and mortality. Sickle cell trait is exclusively associated with rare but often fatal renal medullary cancer. Current cumulative evidence is convincing for associations with hematuria, renal papillary necrosis, hyposthenuria, splenic infarction, exertional rhabdomyolysis, and exercise-related sudden death. Sickle cell trait is probably associated with complicated hyphema, venous thromboembolic events, fetal loss, neonatal deaths, and preeclampsia, and possibly associated with acute chest syndrome, asymptomatic bacteriuria, and anemia in pregnancy. There is insufficient evidence to suggest an independent association with retinopathy, cholelithiasis, priapism, leg ulcers, liver necrosis, avascular necrosis of the femoral head, and stroke. Despite these associations, the average life span of individuals with sickle cell trait is similar to that of the general population. Nonetheless, given the large number of people with sickle cell trait, it is important that physicians be aware of these associations. PMID:19393983

  4. Is MRI Necessary for Skeletal Evaluation in Sickle Cell Disease

    PubMed Central

    Lakhkar, Bhushan. N.; Lakhkar, Bhavana B; Sachan, Shivam

    2015-01-01

    Background More than 50% of the world’s cases of sickle cell anaemia are in India with an estimated population of 1.27 billion as against estimated world’s population of 7.24 billion. Aim MRI of 103 patients of sickle cell disease were evaluated to assess the skeletal changes in proven cases of sickle cell disease and to find the incidence of bony infarcts in such patients. The conversion of red marrow to yellow marrow in these patients were also studied. Materials and Methods Sickle cell patients with musculoskeletal pain as well as asymptomatic sickle cell patients were evaluated by MRI. The standard sequences used wereT1WI, T2WI, STIR, T1WI + Gd Contrast. Results Persistent Red marrow was seen in axial and appendicular skeleton (62 cases). Extramedullary haematopoiesis was found in 4 cases, avascular necrosis of femur head (32 cases) and bone infarcts (46 cases) were also observed in our study. Osteomyelitis, septic arthritis and tubercular infections were associated with sickle cell disease in our study. Conclusion MRI is very sensitive in detecting early stages of avascular necrosis, red marrow persistence, extramedullary haematopoiesis, changes of arthritis, infections and joint effusion. PMID:26266184

  5. Cardiovascular autonomic dysfunction in sickle cell anemia.

    PubMed

    Martins, Wolney de Andrade; Lopes, Heno Ferreira; Consolim-Colombo, Fernanda Marciano; Gualandro, Sandra de Fátima Menosi; Arteaga-Fernández, Edmundo; Mady, Charles

    2012-01-26

    Sickle cell anemia (SCA) is associated to increased cardiac output, normal heart rate (HR), abnormal QT dispersion and lower diastolic blood pressure (DBP). The mechanisms are still unknown. The objective of this study was to test the hypothesis that there is cardiovascular autonomic dysfunction (CAD) in SCA. The secondary objectives were to distinguish the roles of chronic anemia and hemoglobinopathy and to evaluate the predominance of the sympathetic or parasympathetic systems in the pathogenesis of CAD. Sixteen subjects with SCA, 13 with sickle cell trait (SCT), 13 with iron deficiency anemia (IDA), and 13 healthy volunteers (HV) were evaluated. All subjects were submitted to 24h-electrocardiogram (24h-ECG), plasma norepinephrine (NE) measurement before and after isometric exercise (IE), and also Valsalva maneuver (VM), diving maneuver (DV), and tilt test (TT). Baroreflex sensitivity (BRS) was also evaluated. The minimum, average and maximum HR as well as the percentage of bradycardia and tachycardia at 24-h ECG were similar in all groups. NE at baseline and after IE did not differ between groups. The SCA group showed less bradycardia at phase IV of VM, less bradycardia during DV, and also less tachycardia and lower DBP during TT. BRS for bradycardia and tachycardia reflex was decreased in the SCA and SCT groups. In conclusion, 1) there is CAD in SCA, and it is characterized by the reduction of BRS and the limitation of HR modulation mediated by the parasympathetic system; 2) cardiovascular sympathetic activity is preserved in SCA; and 3) hemoglobinopathy is the preponderant ethiopathogenic factor. PMID:21868290

  6. Sickle Cell Research: Yesterday, Today, and Tomorrow | NIH MedlinePlus the Magazine

    MedlinePlus

    ... of a normal red blood cell with normal hemoglobin. Figure B shows abnormal, sickled red blood cells ... cross-section of a sickle-cell with abnormal hemoglobin. Illustration courtesy of National Heart, Lung, and Blood ...

  7. Erythropoietic differentiation of a human embryonic stem cell line harbouring the sickle cell anaemia mutation

    PubMed Central

    Pryzhkova, Marina V; Peters, Ann; Zambidis, Elias T

    2012-01-01

    Herein is reported efficient erythropoietic differentiation of a human embryonic stem cell (ESC) line derived from a preimplantation genetic diagnosis (PGD)-screened embryo that harbours the homozygous sickle cell disease (SCD) haemoglobinopathy mutation. This human ESC line possesses typical pluripotency characteristics and forms multilineage teratomas in vivo. SCD-human ESC efficiently differentiated to the haematopoietic lineage under serum-free and stromal co-culture conditions and gave rise to robust primitive and definitive erythrocytes. Expression of embryonic, fetal and adult sickle globin genes in SCD PGD-derived human ESC-derived erythrocytes was confirmed by quantitative real-time PCR, intracytoplasmic fluorescence-activated cell sorting and insitu immunostaining of PGD-derived human ESC teratoma sections. These data introduce important methodologies and paradigms for using patient-specific human ESC to generate normal and haemoglobinopathic erythroid progenitors for biomedical research. PMID:20541472

  8. [Susceptibility of induced sickle in samples of heterozygous hemoglobin S patients (sickle cell trait) suffering diabetes mellitus type 2].

    PubMed

    Díaz-Piedra, Pablo; Cervantes-Villagrana, Alberto Rafael; Ramos-Jiménez, Raúl; Presno-Bernal, José Miguel; Cervantes-Villagrana, Rodolfo Daniel

    2015-01-01

    Hemoglobin S is an abnormal protein that induces morphological changes in erythrocyte in low-oxygen conditions. In Mexico, it is reported that up to 13.7% of the population with mutation in one allele are considered asymptomatic (sickle cell trait). The sickle cell trait and diabetes mellitus are conditions that occur together in more than one million patients worldwide. Both diseases possibly produce microvascular changes in retinopathy and acute chest syndrome. The aim of this study was to evaluate the induction of sickle cells in samples of diabetic patients with sickle cell trait to identify altered red cell parameters. We obtained samples of diabetic patients to determine hemoglobin A1c and S; furthermore, red blood cell biometrics data were analyzed. We found that older men with diabetes were susceptible to generate sickle cells and this correlated with reduced red blood cell count and an increase in media cell volume. In samples of women diabetes, there were no differences. We conclude that samples from patients with sickle cell trait and diabetes can cause sickle cells with high frequency in men, with lower red blood cells count and increased mean corpuscular volume as susceptibility parameters. PMID:26581534

  9. Headache and Facial Pain in Sickle Cell Disease.

    PubMed

    Vgontzas, Angeliki; Charleston, Larry; Robbins, Matthew S

    2016-03-01

    Children and adolescents with sickle cell disease (SCD) have a high prevalence of recurrent headaches (24.0-43.9 %). Acute presentation with headache can be diagnostically challenging, as the clinician must consider evaluation of several potentially devastating conditions including vascular diseases (stroke, hemorrhage, venous sinus thrombosis, moyamoya, posterior reversible encephalopathy syndrome), facial and orbital bone infarcts, dental pain, and osteomyelitis. Patients with SCD and primary headache disorders may benefit from comprehensive headache treatment plans that include abortive therapy, prophylactic therapy, and non-pharmacological modalities. Although there is limited data in adults, those with SCD are at risk for medication overuse headache secondary to frequent opioid use. Addressing headache in patients with SCD may help to reduce their use of opioids and disability and improve pain and quality of life. PMID:26879878

  10. Mathematical modeling of erythrocyte chimerism informs genetic intervention strategies for sickle cell disease.

    PubMed

    Altrock, Philipp M; Brendel, Christian; Renella, Raffaele; Orkin, Stuart H; Williams, David A; Michor, Franziska

    2016-09-01

    Recent advances in gene therapy and genome-engineering technologies offer the opportunity to correct sickle cell disease (SCD), a heritable disorder caused by a point mutation in the β-globin gene. The developmental switch from fetal γ-globin to adult β-globin is governed in part by the transcription factor (TF) BCL11A. This TF has been proposed as a therapeutic target for reactivation of γ-globin and concomitant reduction of β-sickle globin. In this and other approaches, genetic alteration of a portion of the hematopoietic stem cell (HSC) compartment leads to a mixture of sickling and corrected red blood cells (RBCs) in periphery. To reverse the sickling phenotype, a certain proportion of corrected RBCs is necessary; the degree of HSC alteration required to achieve a desired fraction of corrected RBCs remains unknown. To address this issue, we developed a mathematical model describing aging and survival of sickle-susceptible and normal RBCs; the former can have a selective survival advantage leading to their overrepresentation. We identified the level of bone marrow chimerism required for successful stem cell-based gene therapies in SCD. Our findings were further informed using an experimental mouse model, where we transplanted mixtures of Berkeley SCD and normal murine bone marrow cells to establish chimeric grafts in murine hosts. Our integrative theoretical and experimental approach identifies the target frequency of HSC alterations required for effective treatment of sickling syndromes in humans. Our work replaces episodic observations of such target frequencies with a mathematical modeling framework that covers a large and continuous spectrum of chimerism conditions. Am. J. Hematol. 91:931-937, 2016. © 2016 Wiley Periodicals, Inc. PMID:27299299

  11. [Transitory acute atrioventricular block in an African patient: consider sickle cell anemia].

    PubMed

    Gacon, P-H; Jourdain, P; Funck, F; Amara, W

    2012-11-01

    This case report shows a rare cardiac complication of sickle cell anemia in a young African patient which was an acute paroxysmal atrio-ventricular block. Acute paroxysmal atrioventricular block is a rare complication of polymerization of hemoglobin S during sickle cell disease. Hence, sickle cell anemia should be considered as a cause of auriculoventricular block in black African patients. Cardiac complications of sickle cell anemia are presented in this article. PMID:22980397

  12. Effect of Age on Blood Rheology in Sickle Cell Anaemia and Sickle Cell Haemoglobin C Disease: A Cross-Sectional Study

    PubMed Central

    Renoux, Céline; Romana, Marc; Joly, Philippe; Ferdinand, Séverine; Faes, Camille; Lemonne, Nathalie; Skinner, Sarah; Garnier, Nathalie; Etienne-Julan, Maryse; Bertrand, Yves; Petras, Marie; Cannas, Giovanna; Divialle-Doumdo, Lydia; Nader, Elie; Cuzzubbo, Daniela; Lamarre, Yann; Gauthier, Alexandra; Waltz, Xavier; Kebaili, Kamila; Martin, Cyril; Hot, Arnaud; Hardy-Dessources, Marie-Dominique; Pialoux, Vincent; Connes, Philippe

    2016-01-01

    Objectives Blood rheology plays a key role in the pathophysiology of sickle cell anaemia (SS) and sickle cell haemoglobin C disease (SC), but its evolution over the lifespan is unknown. Materials and Methods Blood viscosity, red blood cell (RBC) deformability and aggregation, foetal haemoglobin (HbF) and haematocrit were measured in 114 healthy individuals (AA), 267 SS (161 children + 106 adults) and 138 SC (74 children + 64 adults) patients. Results Our results showed that 1) RBC deformability is at its maximal value during the early years of life in SS and SC populations, mainly because HbF level is also at its peak, 2) during childhood and adulthood, hydroxycarbamide treatment, HbF level and gender modulated RBC deformability in SS patients, independently of age, 3) blood viscosity is higher in older SS and SC patients compared to younger ones and 4) haematocrit decreases as SS patients age. Conclusion The hemorheological changes detected in older patients could play a role in the progressive development of several chronic disorders in sickle cell disease, whose prevalence increases with age. Retarding these age-related haemorheological impairments, by using suitable drugs, may minimize the risks of vaso-occlusive events and chronic disorders. PMID:27355589

  13. An automated screening technique for the detection of sickle-cell haemoglobin

    PubMed Central

    Canning, D. M.; Crane, R. S.; Huntsman, R. G.; Yawson, G. I.

    1972-01-01

    An automated technique is described which is capable of detecting sickle-cell haemoglobin and differentiating the sickle-cell trait from sickle-cell anaemia. The method is based upon the Itano solubility test and utilizes Technicon equipment. Images PMID:5028640

  14. Pathophysiology and treatment of pulmonary hypertension in sickle cell disease.

    PubMed

    Gordeuk, Victor R; Castro, Oswaldo L; Machado, Roberto F

    2016-02-18

    Pulmonary hypertension affects ∼10% of adult patients with sickle cell disease (SCD), particularly those with the homozygous genotype. An increase in pulmonary artery systolic pressure, estimated noninvasively by echocardiography, helps identify SCD patients at risk for pulmonary hypertension, but definitive diagnosis requires right-heart catheterization. About half of SCD-related pulmonary hypertension patients have precapillary pulmonary hypertension with potential etiologies of (1) a nitric oxide deficiency state and vasculopathy consequent to intravascular hemolysis, (2) chronic pulmonary thromboembolism, or (3) upregulated hypoxic responses secondary to anemia, low O2 saturation, and microvascular obstruction. The remainder have postcapillary pulmonary hypertension secondary to left ventricular dysfunction. Although the pulmonary artery pressure in SCD patients with pulmonary hypertension is only moderately elevated, they have a markedly higher risk of death than patients without pulmonary hypertension. Guidelines for diagnosis and management of SCD-related pulmonary hypertension were published recently by the American Thoracic Society. Management of adults with sickle-related pulmonary hypertension is based on anticoagulation for those with thromboembolism; oxygen therapy for those with low oxygen saturation; treatment of left ventricular failure in those with postcapillary pulmonary hypertension; and hydroxyurea or transfusions to raise the hemoglobin concentration, reduce hemolysis, and prevent vaso-occlusive events that cause additional increases in pulmonary pressure. Randomized trials have not identified drugs to lower pulmonary pressure in SCD patients with precapillary pulmonary hypertension. Patients with hemodynamics of pulmonary arterial hypertension should be referred to specialized centers and considered for treatments known to be effective in other forms of pulmonary arterial hypertension. There have been reports that some of these treatments

  15. Factors associated with lowered intelligence in homozygous sickle cell disease.

    PubMed

    Knight, S; Singhal, A; Thomas, P; Serjeant, G

    1995-10-01

    The intelligence quotient (IQ) of 60 patients with homozygous sickle cell (SS) disease and 60 age and sex matched controls with a normal haemoglobin (AA) genotype aged 15-18 years, followed up in a cohort study from birth, was assessed by the Wechsler intelligence scales for children or for adults. IQ appeared to be normally distributed in both genotypes but mean values in SS disease were 5.6 points (95% confidence interval (CI) 1.0 to 10.2) lower than in AA controls (p = 0.016). The difference occurred in both verbal (5.5 points, p = 0.017) and performance (5.0 points, p = 0.044) subscales of the IQ score and the IQ defect in SS disease was associated with a significantly lower attention factor score (p = 0.005) but not with other factor scores. The genotype difference in IQ was not accounted for by differences in parental occupational level, school absenteeism, or school drop out, or reported activity level. In SS disease, IQ was not related to mean steady state haemoglobin, fetal haemoglobin, or mean cell haemoglobin concentration, or clinical severity as judged by the frequency of painful crises, hospital admission, or sick visits. IQ, at age 15-18 years, correlated with the patients' height at all ages from 1 to 10 years (partial correlations increasing from 0.14 (p = 0.15) at age 1 to 0.27 (p = 0.004) at age 10). Adjusting for height reduced the mean genotype difference in IQ to 5.5 (95% CI 0.6 to 10.3) points at age 1 and to 2.6 points (95% CI to -2.3, 7.5) at age 10. Prepubertal height therefore accounted for much of the genotype difference in IQ. It is speculated that early factors, possible nutritional, contribute to both impaired growth and mental development in sickle cell disease. PMID:7492195

  16. Factors associated with lowered intelligence in homozygous sickle cell disease.

    PubMed Central

    Knight, S; Singhal, A; Thomas, P; Serjeant, G

    1995-01-01

    The intelligence quotient (IQ) of 60 patients with homozygous sickle cell (SS) disease and 60 age and sex matched controls with a normal haemoglobin (AA) genotype aged 15-18 years, followed up in a cohort study from birth, was assessed by the Wechsler intelligence scales for children or for adults. IQ appeared to be normally distributed in both genotypes but mean values in SS disease were 5.6 points (95% confidence interval (CI) 1.0 to 10.2) lower than in AA controls (p = 0.016). The difference occurred in both verbal (5.5 points, p = 0.017) and performance (5.0 points, p = 0.044) subscales of the IQ score and the IQ defect in SS disease was associated with a significantly lower attention factor score (p = 0.005) but not with other factor scores. The genotype difference in IQ was not accounted for by differences in parental occupational level, school absenteeism, or school drop out, or reported activity level. In SS disease, IQ was not related to mean steady state haemoglobin, fetal haemoglobin, or mean cell haemoglobin concentration, or clinical severity as judged by the frequency of painful crises, hospital admission, or sick visits. IQ, at age 15-18 years, correlated with the patients' height at all ages from 1 to 10 years (partial correlations increasing from 0.14 (p = 0.15) at age 1 to 0.27 (p = 0.004) at age 10). Adjusting for height reduced the mean genotype difference in IQ to 5.5 (95% CI 0.6 to 10.3) points at age 1 and to 2.6 points (95% CI to -2.3, 7.5) at age 10. Prepubertal height therefore accounted for much of the genotype difference in IQ. It is speculated that early factors, possible nutritional, contribute to both impaired growth and mental development in sickle cell disease. PMID:7492195

  17. Amputations in Sickle Cell Disease: Case Series and Literature Review.

    PubMed

    Maximo, Claudia; Olalla Saad, Sara T; Thome, Eleonora; Queiroz, Ana Maria Mach; Lobo, Clarisse; Ballas, Samir K

    2016-06-01

    In this study, we describe four new patients with sickle cell disease who had limb amputations. Two of the patients had sickle cell anemia [Hb S (HBB: c.20A > T) (β(S)/β(S))] with refractory leg ulcers that required amputations. The third patient had sickle cell trait with an extensive leg ulcer that was associated with epidermoid carcinoma. The fourth patient had amputations of both forearms and feet due to a misdiagnosis of dactylitis. Review of the literature showed that the indications for amputations in sickle cell disease included three distinct categories: mythical beliefs, therapeutic and malpractice. All therapeutic amputations were for severely painful, large, recalcitrant leg ulcers that failed non-interventional therapies. Amputation resulted in pain relief and better quality of life. Phantom neuropathic pain was not a major issue post-operatively. It was absent, transient or well controlled with antidepressants. Limb function was restored post-amputation with prosthetic artificial limbs, wheelchairs or crutches. Malpractice amputations were due to misdiagnosis or to cryotherapy by exposing the painful limb to ice water resulting in thrombosis, gangrene and amputation. We strongly suggest that leg amputations should be considered in the management of certain patients with severe extensive refractory leg ulcers, and topical cryotherapy should never be used to manage sickle cell pain. PMID:27117565

  18. Air pollution and children's health: sickle cell disease.

    PubMed

    Barbosa, Silvia Maria de Macedo; Farhat, Sylvia Costa Lima; Martins, Lourdes Conceição; Pereira, Luiz Alberto Amador; Saldiva, Paulo Hilário Nascimento; Zanobetti, Antonella; Braga, Alfésio Luís Ferreira

    2015-02-01

    The hallmarks of sickle cell disease are anemia and vasculopathy. The aim of this study was to assess the association between air pollution and children's emergency room visits of sickle cell patients. We adopted a case-crossover design. Daily counts of children's and adolescents' sickle cell disease emergency room visits from the pediatric emergency unit in São Paulo, Brazil, were evaluated from September 1999 to December 2004, matching by temperature, humidity and controlling for day of the week. Interquartile range increases of the four-day moving averages of PM10, NO2, SO2, CO, and O3 were associated with increases of 18.9% (95%CI: 11.2-26.5), 19% (95%CI: 8.3-29.6), 14.4% (95%CI: 6.5-22.4), 16,5% (95%CI: 8.9-24.0), and 9.8% (95%CI: 1.1-18.6) in total sickle cell emergency room visits, respectively. When the analyses were stratified by pain, PM10 was found to be 40.3% higher than in sickle cell patients without pain symptoms. Exposure to air pollution can affect the cardiovascular health of children and may promote a significant health burden in a sensitive group. PMID:25760161

  19. [Anesthesiological management in patients with sickle cell disease].

    PubMed

    Ritterbach, C; Bürkle, H; Dürken, M; Wappler, F

    2002-02-01

    We report on the general anesthesia in the case of an orthopedic surgery conducted on two brothers with sickle cell anemia. After concerted planning with a pediatric hematologist concerning the perioperative management an exchange transfusion was conducted ambulatorily before surgery. The following anesthesia under continuous fluid infusion, warming and regular hemoglobin and temperature control could be conducted without problems. One of the boys was treated with two heterologous red cell packs after an unexpected hemoglobin drop intraoperatively. The postoperative course was uneventful, especially concerning sickle cell relevant complications. The case reports are intended to show up the pathogenesis of patient-relevant sickle cell crises and critically evaluate central points of anesthesiological management, especially the choice of preoperative transfusion. PMID:11865389

  20. Possible Links between Sickle Cell Crisis and Pentavalent Antimony

    PubMed Central

    Garcerant, Daniel; Rubiano, Luisa; Blanco, Victor; Martinez, Javier; Baker, Nancy C.; Craft, Noah

    2012-01-01

    For over 60 years, pentavalent antimony (Sbv) has been the first-line treatment of leishmaniasis. Sickle cell anemia is a disease caused by a defect in red blood cells, which among other things can cause vasooclusive crisis. We report the case of a 6-year-old child with leishmaniasis who during treatment with meglumine antimoniate developed a sickle cell crisis (SCC). No previous reports describing the relationship between antimonial drugs and sickle cell disease were found. Reviews of both the pathophysiology of SCC and the mechanism of action of Sbv revealed that a common pathway (glutathione) may have resulted in the SCC. ChemoText, a novel database created to predict chemical-protein-disease interactions, was used to perform a more expansive and systematic review that was able to support the association between glutathione, Sbv, and SCC. Although suggestive evidence to support the hypothesis, additional research at the bench would be needed to prove Sbv caused the SCC. PMID:22665619

  1. Hematological profile of sickle cell disease from South Gujarat, India.

    PubMed

    Rao, Sanjeev Shyam; Goyal, Jagdish Prasad; Raghunath, S V; Shah, Vijay B

    2012-05-10

    The aim of this study was to determine hematological profile of sickle cell disease (SCD) from Surat, South Gujarat, India. This prospective cross-sectional study was conducted in the Department of Pediatrics and Sickle Cell Anemia Laboratory, Faculty of Pathology, Government Medical College, Surat, India, between July 2009 and December 2010. Patients included in this study were in their steady state for a long period of time without any symptoms related to SCD or other diseases which could affect the hematological parameters. Venous blood of all patients was collected in ethylenediaminetetraacetic acid and hematological indices were measured. Thirty-three subjects homozygous in all were studied for their hematological parameters for sickle cell anemia. Moderate to severe anemia, low mean cell volume and high foetal hemoglobin dominate the hematological profile of SCD children. PMID:22826798

  2. Hematological profile of sickle cell disease from South Gujarat, India

    PubMed Central

    Rao, Sanjeev Shyam; Goyal, Jagdish Prasad; Raghunath, S.V.; Shah, Vijay B.

    2012-01-01

    The aim of this study was to determine hematological profile of sickle cell disease (SCD) from Surat, South Gujarat, India. This prospective cross-sectional study was conducted in the Department of Pediatrics and Sickle Cell Anemia Laboratory, Faculty of Pathology, Government Medical College, Surat, India, between July 2009 and December 2010. Patients included in this study were in their steady state for a long period of time without any symptoms related to SCD or other diseases which could affect the hematological parameters. Venous blood of all patients was collected in ethylenediaminetetraacetic acid and hematological indices were measured. Thirty-three subjects homozygous in all were studied for their hematological parameters for sickle cell anemia. Moderate to severe anemia, low mean cell volume and high foetal hemoglobin dominate the hematological profile of SCD children. PMID:22826798

  3. Microvascular oxygen consumption during sickle cell pain crisis.

    PubMed

    Rowley, Carol A; Ikeda, Allison K; Seidel, Miles; Anaebere, Tiffany C; Antalek, Matthew D; Seamon, Catherine; Conrey, Anna K; Mendelsohn, Laurel; Nichols, James; Gorbach, Alexander M; Kato, Gregory J; Ackerman, Hans

    2014-05-15

    Sickle cell disease is an inherited blood disorder characterized by chronic hemolytic anemia and episodic vaso-occlusive pain crises. Vaso-occlusion occurs when deoxygenated hemoglobin S polymerizes and erythrocytes sickle and adhere in the microvasculature, a process dependent on the concentration of hemoglobin S and the rate of deoxygenation, among other factors. We measured oxygen consumption in the thenar eminence during brachial artery occlusion in sickle cell patients and healthy individuals. Microvascular oxygen consumption was greater in sickle cell patients than in healthy individuals (median [interquartile range]; sickle cell: 0.91 [0.75-1.07] vs healthy: 0.75 [0.62-0.94] -ΔHbO2/min, P < .05) and was elevated further during acute pain crisis (crisis: 1.10 [0.78-1.30] vs recovered: 0.88 [0.76-1.03] -ΔHbO2/min, P < .05). Increased microvascular oxygen consumption during pain crisis could affect the local oxygen saturation of hemoglobin when oxygen delivery is limiting. Identifying the mechanisms of elevated oxygen consumption during pain crisis might lead to the development of new therapeutic interventions. This trial was registered at www.clinicaltrials.gov as #NCT01568710. PMID:24665133

  4. Microvascular oxygen consumption during sickle cell pain crisis

    PubMed Central

    Rowley, Carol A.; Ikeda, Allison K.; Seidel, Miles; Anaebere, Tiffany C.; Antalek, Matthew D.; Seamon, Catherine; Conrey, Anna K.; Mendelsohn, Laurel; Nichols, James; Gorbach, Alexander M.; Kato, Gregory J.

    2014-01-01

    Sickle cell disease is an inherited blood disorder characterized by chronic hemolytic anemia and episodic vaso-occlusive pain crises. Vaso-occlusion occurs when deoxygenated hemoglobin S polymerizes and erythrocytes sickle and adhere in the microvasculature, a process dependent on the concentration of hemoglobin S and the rate of deoxygenation, among other factors. We measured oxygen consumption in the thenar eminence during brachial artery occlusion in sickle cell patients and healthy individuals. Microvascular oxygen consumption was greater in sickle cell patients than in healthy individuals (median [interquartile range]; sickle cell: 0.91 [0.75-1.07] vs healthy: 0.75 [0.62-0.94] −ΔHbO2/min, P < .05) and was elevated further during acute pain crisis (crisis: 1.10 [0.78-1.30] vs recovered: 0.88 [0.76-1.03] −ΔHbO2/min, P < .05). Increased microvascular oxygen consumption during pain crisis could affect the local oxygen saturation of hemoglobin when oxygen delivery is limiting. Identifying the mechanisms of elevated oxygen consumption during pain crisis might lead to the development of new therapeutic interventions. This trial was registered at www.clinicaltrials.gov as #NCT01568710. PMID:24665133

  5. One view of the pathogenesis of sickle cell diseases.

    PubMed

    Charache, S

    1983-01-01

    A single amino acid substitution in the beta chain of hemoglobin (beta 6 glutamic acid leads to valine) is responsible for polymerization of deoxyhemoglobin S, and the sickling of red blood cells containing that hemoglobin. Sickled cells are rigid and inflexible, causing obstruction of small blood vessels, which in turn causes obstruction of small blood vessels, which in turn causes ischemic injury. Organs most frequently damaged include the spleen, bone marrow, liver, and kidney. Sickled cells also have a shortened survival; the hemolytic anemia they produce is responsible for aplastic crises, megaloblastic anemia, ankle ulcers, gallstones and gout. "Sickle cell lung disease" is a serious problem, since distinction between infection and infarction is difficult or impossible, and impaired oxygenation of the blood makes further sickling likely. Since the entire patient, not just his blood, is affected by the disease, treatment must go beyond transfusion and drug administration. Each patient presents a new constellation of problems, and therapy must be individualized if it is to be optimal. PMID:6626767

  6. Dynamic deformability of sickle red blood cells in microphysiological flow

    PubMed Central

    Alapan, Y.; Matsuyama, Y.; Little, J. A.; Gurkan, U. A.

    2016-01-01

    In sickle cell disease (SCD), hemoglobin molecules polymerize intracellularly and lead to a cascade of events resulting in decreased deformability and increased adhesion of red blood cells (RBCs). Decreased deformability and increased adhesion of sickle RBCs lead to blood vessel occlusion (vaso-occlusion) in SCD patients. Here, we present a microfluidic approach integrated with a cell dimensioning algorithm to analyze dynamic deformability of adhered RBC at the single-cell level in controlled microphysiological flow. We measured and compared dynamic deformability and adhesion of healthy hemoglobin A (HbA) and homozygous sickle hemoglobin (HbS) containing RBCs in blood samples obtained from 24 subjects. We introduce a new parameter to assess deformability of RBCs: the dynamic deformability index (DDI), which is defined as the time-dependent change of the cell’s aspect ratio in response to fluid flow shear stress. Our results show that DDI of HbS-containing RBCs were significantly lower compared to that of HbA-containing RBCs. Moreover, we observed subpopulations of HbS containing RBCs in terms of their dynamic deformability characteristics: deformable and non-deformable RBCs. Then, we tested blood samples from SCD patients and analyzed RBC adhesion and deformability at physiological and above physiological flow shear stresses. We observed significantly greater number of adhered non-deformable sickle RBCs than deformable sickle RBCs at flow shear stresses well above the physiological range, suggesting an interplay between dynamic deformability and increased adhesion of RBCs in vaso-occlusive events. PMID:27437432

  7. In the clinic. Sickle cell disease.

    PubMed

    Steinberg, Martin H

    2011-09-01

    This issue provides a clinical overview of sickle cell disease focusing on prevention, diagnosis, treatment, practice improvement, and patient information. Readers can complete the accompanying CME quiz for 1.5 credits. Only ACP members and individual subscribers can access the electronic features of In the Clinic. Non-subscribers who wish to access this issue of In the Clinic can elect "Pay for View." Subscribers can receive 1.5 category 1 CME credits by completing the CME quiz that accompanies this issue of In the Clinic. The content of In the Clinic is drawn from the clinical information and education resources of the American College of Physicians (ACP), including PIER (Physicians' Information and Education Resource) and MKSAP (Medical Knowledge and Self Assessment Program). Annals of Internal Medicine editors develop In the Clinic from these primary sources in collaboration with the ACP's Medical Education and Publishing division and with assistance of science writers and physician writers. Editorial consultants from PIER and MKSAP provide expert review of the content. Readers who are interested in these primary resources for more detail can consult www.acponline.org, http://pier.acponline.org, and other resources referenced within each issue of In the Clinic. PMID:21893620

  8. Wheezing in Children with Sickle Cell Disease

    PubMed Central

    Glassberg, Jeffrey A.; Strunk, Robert

    2014-01-01

    Purpose of review The purpose of this article is to provide a comprehensive review of wheezing in sickle cell disease (SCD) including epidemiology, pathophysiology, associations between wheezing and SCD morbidity and finally the clinical approach to evaluation and management of individuals with SCD who wheeze. Recent findings Wheezing is common in SCD and in some individuals represents an intrinsic component of SCD related lung disease rather than asthma. Emerging data suggest that regardless of the etiology, individuals with SCD and with recurrent wheezing are at increased risk for subsequent morbidity and premature mortality. We believe Individuals that acutely wheeze and have respiratory symptoms should be managed with a beta agonist and short term treatment of oral steroids, typically less than 3 days to attenuate rebound vaso-occlusive disease. For those that wheeze and have a history or examination associated with atopy, we consider asthma treatment and monitoring per NHLBI asthma guidelines. Summary Wheezing in SCD should be treated aggressively in both the acute setting and with controller medications. Prospective SCD-specific clinical trials will be necessary to address whether anti-inflammatory asthma therapies (leukotriene antagonists, inhaled corticosteroids) can safely mitigate the sequelae of wheezing in SCD. PMID:24370489

  9. Somatic growth and lung function in sickle cell disease.

    PubMed

    Catanzaro, Tina; Koumbourlis, Anastassios C

    2014-03-01

    Somatic growth is a key indicator of overall health and well-being with important prognostic implications in the management of chronic disease. Worldwide studies of growth in children and adults with SCD have predominantly shown delayed growth (especially in terms of body weight) that is gradual and progressive in nature. However, more recent studies have shown that a substantial number of patients with SCD have normal weight gain whereas some are even obese. Height in patients with SCD is not universally affected even among those with suboptimal weight gain, whereas some achieve the same or greater height than healthy controls. The relationship between somatic growth and lung function in SCD is not yet clearly defined. As a group, patients with SCD tend to have lower lung volumes compared with healthy controls. These findings are similar across the age spectrum and across ethnic/racial lines regardless of the differences in body weight. Several mechanisms and risk factors have been proposed to explain these findings. These include malnutrition, racial differences and socioeconomic status. In addition, there are structural changes of the thorax (specifically the anterio-posterior chest diameter and anterio-posterior to lateral chest ratio) specific to sickle cell disease, that potentially interfere with normal lung growth. Although, caloric and protein intake have been shown to improve both height and weight, the composition of an optimal diet remains unclear. The following article reviews the current knowledge and controversies regarding somatic growth and its relationship with lung function in sickle cell disease (SCD) as well as the role of specific deficiencies of certain micronutrients. PMID:24268619

  10. Advances in Sickle Cell Therapies in the Hydroxyurea Era

    PubMed Central

    Field, Joshua J; Nathan, David G

    2014-01-01

    In the hydroxyurea era, insights into mechanisms downstream of erythrocyte sickling have led to new therapeutic approaches for patients with sickle cell disease (SCD). Therapies have been developed that target vascular adhesion, inflammation and hemolysis, including innovative biologics directed against P-selectin and invariant natural killer T cells. Advances in hematopoietic stem cell transplant and gene therapy may also provide more opportunities for cures in the near future. Several clinical studies are underway to determine the safety and efficacy of these new treatments. Novel approaches to treat SCD are desperately needed, since current therapies are limited and rates of morbidity and mortality remain high. PMID:25549232

  11. Advances in sickle cell therapies in the hydroxyurea era.

    PubMed

    Field, Joshua J; Nathan, David G

    2014-01-01

    In the hydroxyurea era, insights into mechanisms downstream of erythrocyte sickling have led to new therapeutic approaches for patients with sickle cell disease (SCD). Therapies have been developed that target vascular adhesion, inflammation and hemolysis, including innovative biologics directed against P-selectin and invariant natural killer T cells. Advances in hematopoietic stem cell transplant and gene therapy may also provide more opportunities for cures in the near future. Several clinical studies are underway to determine the safety and efficacy of these new treatments. Novel approaches to treat SCD are desperately needed, since current therapies are limited and rates of morbidity and mortality remain high. PMID:25549232

  12. Acute nursing care and management of patients with sickle cell.

    PubMed

    De, Diana

    The information provided in this article has been developed to coincide with the recent findings from a National Confidential Enquiry into Patient Outcome and Death (2008) report, 'A Sickle Cell Crisis', which calls for nurses to learn more about the disorder in order to better support patients in their care. This article reiterates much of the previous written literature, which has made reference to compromised patient care due to the ongoing unfamiliarity surrounding sickle cell disorders among healthcare professionals in Western societies. Readers will be given an overview of the condition and general clinical guidance on the management of care for patients when they are experiencing a state of'crisis'. Readers should note that the term 'painful episodes' is sometimes used in preference to sickle cell 'crises'. PMID:18856142

  13. Paramagnetic Europium Salen Complex and Sickle-Cell Anemia

    NASA Astrophysics Data System (ADS)

    Wynter, Clive I.; Ryan, D. H.; May, Leopold; Oliver, F. W.; Brown, Eugene; Hoffman, Eugene J.; Bernstein, David

    2005-04-01

    A new europium salen complex, Eu(salen)2NH4, was synthesized, and its composition was confirmed by chemical analysis and infrared spectroscopy. Further characterization was carried out by 151 Eu Mössbauer spectroscopy and magnetic susceptibility measurements. Mössbauer spectroscopic measurements were made at varying temperatures between 9 K and room temperature and a value of Debye temperature of 133 ±5 K was computed. Both Mössbauer and magnetic susceptibility measurements confirmed the paramagnetic behavior of this complex and the trivalent state of the europium ion. In view of the fact that the "odd" paramagnetic molecule NO has been shown to reverse sickling of red blood cells in sickle cell anemia, the interaction between the paramagnetic europium salen complex and sickle cells was examined after incubation with this europium complex and shown to have similar effects.

  14. Bilateral orbital bone infarction in sickle-cell disease.

    PubMed

    Ghafouri, Roya H; Lee, Irene; Freitag, Suzanne K; Pira, Tony N

    2011-01-01

    This is a case of a 2-year-old boy with sickle cell disease who presented with bilateral eyelid swelling, limited extraocular motility, and lateral subperiosteal fluid collection associated with bilateral lateral orbital wall infarctions on MRI. The patient was managed medically with intravenous fluids, analgesics, broad-spectrum antibiotics, systemic steroids, and clinically improved. Patients with sickle cell disease are susceptible to infarction of the orbital bones during vaso-occlusive crises. Orbital wall infarction can lead to acute proptosis and restricted extraocular motility. Orbital wall infarction should be considered in sickle cell patients with orbital diseases so that appropriate treatment can be instituted promptly to prevent the serious sequelae of orbital compression syndrome. PMID:20577135

  15. Sickle cell trait and sudden death--bringing it home.

    PubMed Central

    Mitchell, Bruce L.

    2007-01-01

    Sickle cell trait continues to be the leading cause of sudden death for young African Americans in military basic training and civilian organized sports. The syndrome may have caused the death of up to 10 college football players since 1974 and, as recently as 2000, was suspected as the cause of death of three U.S. Army recruits. The penal military-style boot camps in the United States and the recent death of two teenagers with sickle cell trait merits renewed vigor in the education of athletic instructors, the military and the public about conditions associated with sudden death in individuals with sickle cell trait. Images Figure 1 Figure 2 PMID:17393956

  16. Magnetic resonance imaging in pediatric sickle cell anemia

    PubMed Central

    Zhang, Xinxian; Li, Chenglong; Li, Qiancheng

    2016-01-01

    Sickle cell disease is the result of altered genetic make up due to hereditary encounter and its form as homozygous sickle cell anemia is the most common and severe. The disease is characterized by chronic anemia, recurrent pain crises and vascular occlusion. Neurologically, there is a high incidence of stroke in childhood, as well as cognitive dysfunction. Newborn screening programmes and preventative treatments have allowed a much longer lifespan. However, recently, neurological research has shifted to characterizing more subtle aspects of brain development and functioning that may be critically important to the individual's quality of life. The present review article examines the neurological and neurocognitive complications of sickle cell disease, and discusses the importance of magnetic resonance imaging scans in the management of the disease. PMID:27446243

  17. Sickle cell disease biochip: a functional red blood cell adhesion assay for monitoring sickle cell disease.

    PubMed

    Alapan, Yunus; Kim, Ceonne; Adhikari, Anima; Gray, Kayla E; Gurkan-Cavusoglu, Evren; Little, Jane A; Gurkan, Umut A

    2016-07-01

    Sickle cell disease (SCD) afflicts millions of people worldwide and is associated with considerable morbidity and mortality. Chronic and acute vaso-occlusion are the clinical hallmarks of SCD and can result in pain crisis, widespread organ damage, and early movtality. Even though the molecular underpinnings of SCD were identified more than 60 years ago, there are no molecular or biophysical markers of disease severity that are feasibly measured in the clinic. Abnormal cellular adhesion to vascular endothelium is at the root of vaso-occlusion. However, cellular adhesion is not currently evaluated clinically. Here, we present a clinically applicable microfluidic device (SCD biochip) that allows serial quantitative evaluation of red blood cell (RBC) adhesion to endothelium-associated protein-immobilized microchannels, in a closed and preprocessing-free system. With the SCD biochip, we have analyzed blood samples from more than 100 subjects and have shown associations between the measured RBC adhesion to endothelium-associated proteins (fibronectin and laminin) and individual RBC characteristics, including hemoglobin content, fetal hemoglobin concentration, plasma lactate dehydrogenase level, and reticulocyte count. The SCD biochip is a functional adhesion assay, reflecting quantitative evaluation of RBC adhesion, which could be used at baseline, during crises, relative to various long-term complications, and before and after therapeutic interventions. PMID:27063958

  18. Sickle cell disease biochip: a functional red blood cell adhesion assay for monitoring sickle cell disease

    PubMed Central

    ALAPAN, YUNUS; KIM, CEONNE; ADHIKARI, ANIMA; GRAY, KAYLA E.; GURKAN-CAVUSOGLU, EVREN; LITTLE, JANE A.; GURKAN, UMUT A.

    2016-01-01

    Sickle cell disease (SCD) afflicts millions of people worldwide and is associated with considerable morbidity and mortality. Chronic and acute vaso-occlusion are the clinical hallmarks of SCD and can result in pain crisis, widespread organ damage, and early movtality. Even though the molecular underpinnings of SCD were identified more than 60 years ago, there are no molecular or biophysical markers of disease severity that are feasibly measured in the clinic. Abnormal cellular adhesion to vascular endothelium is at the root of vaso-occlusion. However, cellular adhesion is not currently evaluated clinically. Here, we present a clinically applicable microfluidic device (SCD biochip) that allows serial quantitative evaluation of red blood cell (RBC) adhesion to endothelium-associated protein-immobilized microchannels, in a closed and preprocessing-free system. With the SCD biochip, we have analyzed blood samples from more than 100 subjects and have shown associations between the measured RBC adhesion to endothelium-associated proteins (fibronectin and laminin) and individual RBC characteristics, including hemoglobin content, fetal hemoglobin concentration, plasma lactate dehydrogenase level, and reticulocyte count. The SCD biochip is a functional adhesion assay, reflecting quantitative evaluation of RBC adhesion, which could be used at baseline, during crises, relative to various long-term complications, and before and after therapeutic interventions. PMID:27063958

  19. Role of Exercise-Induced Oxidative Stress in Sickle Cell Trait and Disease.

    PubMed

    Chirico, Erica N; Faës, Camille; Connes, Philippe; Canet-Soulas, Emmanuelle; Martin, Cyril; Pialoux, Vincent

    2016-05-01

    Sickle cell disease is a class of hemoglobinopathy in humans, which is the most common inherited disease in the world. Although complications of sickle cell disease start from polymerization of red blood cells during its deoxygenating phase, the oxidative stress resulting from the biological processes associated with this disease (ischaemic and hypoxic injuries, hemolysis and inflammation) has been shown to contribute to its pathophysiology. It is widely known that chronic exercise reduces oxidative stress in healthy people, mainly via improvement of antioxidant enzyme efficiency. In addition, recent studies in other diseases, as well as in sickle cell trait carriers and in a mouse model of sickle cell disease, have shown that regular physical activity could decrease oxidative stress. The purpose of this review is to summarize the role of oxidative stress in sickle cell disease and the effects of acute and chronic exercise on the pro-oxidant/antioxidant balance in sickle cell trait and sickle cell disease. PMID:26666745

  20. Detrimental effects of adenosine signaling in sickle cell disease

    PubMed Central

    Zhang, Yujin; Dai, Yingbo; Wen, Jiaming; Zhang, Weiru; Grenz, Almut; Sun, Hong; Tao, Lijian; Lu, Guangxiu; Alexander, Danny C; Milburn, Michael V; Carter-Dawson, Louvenia; Lewis, Dorothy E; Zhang, Wenzheng; Eltzschig, Holger K; Kellems, Rodney E; Blackburn, Michael R; Juneja, Harinder S; Xia, Yang

    2016-01-01

    Hypoxia can act as an initial trigger to induce erythrocyte sickling and eventual end organ damage in sickle cell disease (SCD). Many factors and metabolites are altered in response to hypoxia and may contribute to the pathogenesis of the disease. Using metabolomic profiling, we found that the steady-state concentration of adenosine in the blood was elevated in a transgenic mouse model of SCD. Adenosine concentrations were similarly elevated in the blood of humans with SCD. Increased adenosine levels promoted sickling, hemolysis and damage to multiple tissues in SCD transgenic mice and promoted sickling of human erythrocytes. Using biochemical, genetic and pharmacological approaches, we showed that adenosine A2B receptor (A2BR)-mediated induction of 2,3-diphosphoglycerate, an erythrocyte-specific metabolite that decreases the oxygen binding affinity of hemoglobin, underlies the induction of erythrocyte sickling by excess adenosine both in cultured human red blood cells and in SCD transgenic mice. Thus, excessive adenosine signaling through the A2BR has a pathological role in SCD. These findings may provide new therapeutic possibilities for this disease. PMID:21170046

  1. Effect of Extended Release Niacin on Serum Lipids and on Endothelial Function in Adults with Sickle Cell Anemia and Low High-Density Lipoprotein Cholesterol Levels

    PubMed Central

    Scoffone, Heather M.; Krajewski, Megan; Zorca, Suzana; Bereal-Williams, Candice; Littel, Patricia; Seamon, Catherine; Mendelsohn, Laurel; Footman, Eleni; Jaoudeh, Nadine Abi; Sachdev, Vandana; Machado, Roberto F.; Cuttica, Michael; Shamburek, Robert; Cannon, Richard O.; Remaley, Alan; Minniti, Caterina P.; Kato, Gregory J.

    2014-01-01

    Through bound apolipoprotein A-I (apoA-I), high density lipoprotein cholesterol (HDL-C) activates endothelial nitric oxide synthase, inducing vasodilation. Because patients with sickle cell disease (SCD)have low apoA-I andendothelial dysfunction,we conducted a randomized, double-blinded, placebo-controlled trial to test whether extended-release niacin (niacin-ER) increases apoA-I-containing HDL-C, and improves vascular function in SCD. Twenty-seven SCD patientswith HDL-C <39 mg/dL or apoA-I <99 mg/dL were randomized to 12 weeks of niacin-ER, increased in 500mg increments to a maximum of 1500mg daily, or placebo. The primary outcome was the absolute change in HDL-C after 12 weeks, with endothelial function assessed before and at the end of treatment. Niacin-ER-treated patients trended to greater increase in HDL-C compared with placebo treatment at 12 weeks (5.1±7.7 vs. 0.9±3.8 mg/dL, one-tailed p=0.07), associated with significantly greater, improvements in the ratios of low-density lipoprotein to HDL-C (1.24 vs. 1.95, p = 0.003), and apolipoprotein B to apoA-I (0.46 vs. 0.58, p = 0.03) compared with placebo-treated patients. No improvements were detected in three independent vascular physiology assays of endothelial function. Thus, the relatively small changes in HDL-C achieved by the dose of niacin-ER used in our study are not associated with improved vascular function in patients with SCD with initially low levels of apoA-I or HDL-C. PMID:24035168

  2. West African Crystalline Maculopathy in Sickle Cell Retinopathy

    PubMed Central

    Kung, Jennifer S.; Leng, Theodore

    2015-01-01

    Purpose. To describe the first reported case of West African crystalline maculopathy (WACM) from a member of the Benin tribe and explore the association with sickle cell retinopathy. Methods. Full ophthalmic examination and high-resolution ocular coherence tomographic imaging. Patients. 61-year-old patient from an academic retina practice. Results. The patient demonstrated bilateral yellow-green birefringent crystals localized to the inner retina on optical coherence tomography, as well as sickle cell-related neovascularization in the right eye. She reported no consumption of kola nuts. Conclusions. Associated retinal vascular disease may be important in the pathogenesis of crystalline maculopathy. PMID:26788391

  3. [Hyphema with secondary hemorrhage: think about sickle cell disease].

    PubMed

    Karim, A; Laghmari, M; Dahreddine, M; Guedira, K; Ibrahimy, W; Essakali, N; Mohcine, Z

    2004-04-01

    The Authors report a case of a 13-Year-old white child who presented a grade I hyphema, anterior chamber inflammation after trauma. He presented a secondary hemorrhage with increased intraocular pressure that was not controlled within 48 h, thus requiring surgical intervention. A hemoglobin electrophoresis and hemostasis test showed a sickle cell trait. After hemorrhage resorption, the ocular fundus showed substantial retinal hemorrhage. The final visual outcome was poor and attributed to optic atrophy. Sickle cell trait is a significant risk factor for secondary hemorrhage, increased intraocular pressure, and permanent visual impairement in children who have traumatic hyphemas following blunt trauma. PMID:15173649

  4. Systemic lupus erythematosus in patients with sickle cell disease.

    PubMed

    Appenzeller, Simone; Fattori, Andre; Saad, Sarita T; Costallat, Lilian T L

    2008-03-01

    Sickle cell disease (SCD) is a prevalent genetic disorder that includes sickle cell anemia (hemoglobin SS), hemoglobin SC, and hemoglobin Sb-thalassemia. Patients with SCD present with a defective activation of the alternate pathway of the complement system that increases the risk of capsulate bacteria infection and failure to eliminate antigens, predisposing these patients to autoimmune diseases. The authors describe three patients with SCD that developed systemic lupus erythematosus (SLE). In all patients, SLE diagnosis was delayed because symptoms were initially attributable to SCD. Physicians should be alerted to the possible development of SLE in patients with SCD to not delay the diagnosis and start appropriate treatment. PMID:18000698

  5. Sickle-cell pain: advances in epidemiology and etiology.

    PubMed

    Smith, Wally R; Scherer, Marshall

    2010-01-01

    New epidemiological findings recast pain in sickle-cell disease (SCD) as being more often a chronic manifestation than was previously thought, although acute pain is still the hallmark of the disease. SCD pain intensity, the number of painful locations, and the frequency of hospitalizations due to SCD pain may worsen with age. In adults and even in children, the quantity and severity of SCD pain may be vastly underestimated, because most of the "iceberg" of SCD pain is "submerged" at home, and only the tip of the iceberg is seen by health care providers when acute SCD care is rendered in emergency rooms and hospitals. Implications of this "iceberg phenomenon" are significant for clinicians, researchers, employers, policy makers, and the public. Nevertheless, both emergency room and hospital utilization for SCD pain remain prevalent. Often, utilization recurs early, perhaps emblematic of poor acute pain management. New data show the protean impacts of SCD pain on health-related quality of life, sleep, and psychological and social health. The relationship of the severity of SCD pain to the severity of underlying sickle vasculopathy is unclear, but epidemiologic evidence and patient descriptors suggest a temporal evolution of pain mechanisms. At first, increasingly worse nociceptive pain from vaso-occlusion and local lesions may evolve over the first two decades of life. Then, in the third and following decades, central neuropathic pain may also evolve due to past and continuing nociceptive stimuli. New findings confirm environmental contributors to SCD pain, including seasonal (colder) temperatures, barometric pressure, and wind speed. PMID:21239827

  6. Priapism in a patient with sickle cell trait using marijuana

    PubMed Central

    Matta, Abhishek; Tandra, Pavan Kumar; Berim, Lyudmyla

    2014-01-01

    A 22-year-old man with a history of multiple episodes of priapism presented to the emergency room with an erection lasting more than 48 h after conservative management failed at home. He had no known family history of sickle cell disease or trait. He was haemodynamically stable. Physical examination revealed an enlarged, tender penis. Laboratory data revealed a positive sickle solubility test. Haemoglobin electrophoresis revealed sickle cell trait and urine drug screen was positive for cannabinoids. Initial management was attempted with intracavernosal phenylephrine without any success. The patient underwent a limited El-Ghorab procedure on the right corpora cavernosa but the priapism did not resolve adequately. Two  days later, the patient had to undergo a bilateral El-Ghorab procedure and achieved complete resolution of the priapism. PMID:24798364

  7. Neurologic and Head and Neck Manifestations of Sickle Cell Disease.

    PubMed

    Steven, Andrew; Raghavan, Prashant; Rath, Tanya J; Gandhi, Dheeraj

    2016-08-01

    Sickle cell disease is a common, inherited disordered characterized by chronic hemolytic anemia with repetitive episodes of vasoocclusion resulting from deformed red blood cells. This article reviews the most significant neurologic and head and neck manifestations of this disease. PMID:27443997

  8. Chronic Pulmonary Complications of Sickle Cell Disease.

    PubMed

    Mehari, Alem; Klings, Elizabeth S

    2016-05-01

    Sickle cell disease (SCD), the most common genetic hemolytic anemia worldwide, affects 250,000 births annually. In the United States, SCD affects approximately 100,000 individuals, most of African descent. Hemoglobin S (HbS) results from a glutamate-to-valine mutation of the sixth codon of the β-hemoglobin allele; the homozygous genotype (HbSS) is associated with the most prevalent and severe form of the disease. Other SCD genotypes include HbSC, composed of one HbS allele and one HbC (glutamate-to-lysine mutation) allele; and HbS-β-thalassemia(0) or HbS-β-thalassemia(+), composed of one HbS allele and one β-thalassemia allele with absent or reduced β-chain production, respectively. Despite advances in care, median survival remains in the fifth decade, due in large part to chronic complications of the disease. Chronic pulmonary complications in SCD are major contributors to this early mortality. Although our understanding of these conditions has improved much over the past 10 to 15 years, there remains no specific treatment for pulmonary complications of SCD. It is unclear whether conventional treatment regimens directed at non-SCD populations have equivalent efficacy in patients with SCD. This represents a critical research need. In this review, the authors review the state-of-the-art understanding of the following pulmonary complications of SCD: (1) pulmonary hypertension; (2) venous thromboembolic disease; (3) sleep-disordered breathing; (4) asthma and recurrent wheezing; and (5) pulmonary function abnormalities. This review highlights the advances as well as the knowledge gaps in this field to update clinicians and other health care providers and to garner research interest from the medical community. PMID:26836905

  9. Obstructive Sleep Apnea and Sickle Cell Anemia

    PubMed Central

    Debaun, Michael R.; Strunk, Robert C.; Redline, Susan; Seicean, Sinziana; Craven, Daniel I.; Gavlak, Johanna C.D.; Wilkey, Olu; Inusa, Baba; Roberts, Irene; Goodpaster, R. Lucas; Malow, Beth; Rodeghier, Mark; Kirkham, Fenella J.

    2014-01-01

    OBJECTIVE: To ascertain the prevalence of and risk factors for obstructive sleep apnea syndrome (OSAS) in children with sickle cell anemia (SCA). METHODS: Cross-sectional baseline data were analyzed from the Sleep and Asthma Cohort Study, a multicenter prospective study designed to evaluate the contribution of sleep and breathing abnormalities to SCA-related morbidity in children ages 4 to 18 years, unselected for OSAS symptoms or asthma. Multivariable logistic regression assessed the relationships between OSAS status on the basis of overnight in-laboratory polysomnography and putative risk factors obtained from questionnaires and direct measurements. RESULTS: Participants included 243 children with a median age of 10 years; 50% were boys, 99% were of African heritage, and 95% were homozygous for βS hemoglobin. OSAS, defined by obstructive apnea hypopnea indices, was present in 100 (41%) or 25 (10%) children at cutpoints of ≥1 or ≥5, respectively. In univariate analyses, OSAS was associated with higher levels of habitual snoring, lower waking pulse oxygen saturation (Spo2), reduced lung function, less caretaker education, and non–preterm birth. Lower sleep-related Spo2 metrics were also associated with higher obstructive apnea hypopnea indices. In multivariable analyses, habitual snoring and lower waking Spo2 remained risk factors for OSAS in children with SCA. CONCLUSIONS: The prevalence of OSAS in children with SCA is higher than in the general pediatric population. Habitual snoring and lower waking Spo2 values, data easily obtained in routine care, were the strongest OSAS risk factors. Because OSAS is a treatable condition with adverse health outcomes, greater efforts are needed to screen, diagnose, and treat OSAS in this high-risk, vulnerable population. PMID:25022740

  10. How Is Sickle Cell Disease Diagnosed?

    MedlinePlus

    ... who do not know whether they make sickle hemoglobin (hemoglobin S) or another abnormal hemoglobin (such as C, β thalassemia, E) can find ... i.e., have the trait ) for an abnormal hemoglobin that they could pass on to a child. ...

  11. Successful Aging with Sickle Cell Disease: Using Qualitative Methods to Inform Theory

    PubMed Central

    Jenerette, Coretta M.; Lauderdale, Gloria

    2009-01-01

    Little is known about the lives of adults with sickle cell disease (SCD). This article reports findings from a qualitative pilot study, which used life review as a method to explore influences on health outcomes among middle-aged and older adults with SCD, Six females with SCD, recruited from two urban sickle cell clinics in the U.S., engaged in semi-structured, in-depth life review interviews. MaxQDA2 software was used for qualitative data coding and analysis. Three major themes were identified: vulnerability factors, self-care management resources, and health outcomes. These themes are consistent with the Theory of Self-Care Management for Sickle Cell Disease. Identifying vulnerability factors, self-care management resources, and health outcomes in adults with SCD may aid in developing theory-based interventions to meet health care needs of younger individuals with SCD. The life review process is a useful means to gain insight into successful aging with SCD and other chronic illnesses. PMID:19838320

  12. Serum-alpha-hydroxybutyrate dehydrogenase levels in sickle-cell disease and sickle-cell crisis.

    PubMed

    White, J M; Billimoria, F; Muller, M A; Davis, L R; Stroud, C E

    1978-03-11

    In patients with sickle-cell disease (Hb S/S disease) who are not in crisis, the serum-level of alpha-hydroxybutyrate dehydrogenase (alpha-H.B.D.) is significantly above normal. The degree of elevation correlates with the severity of the disease. During infarctive crises the level increases still further by a factor of 2 to 3, and it returns to the patient's normal level on recovery. The level of alpha-H.B.D. thus provides an index of the severity of the disease. Also, it allows distinction between true infarctive crisis, infection, and fake symptoms. In 5 patients a rise in the level of alpha-H.B.D. above the patient's normal level was detected several days before the onset of symptoms, which suggests that there may be a "prodromal" phase. PMID:76073

  13. Pulmonary hypertension in children and adolescents with sickle cell disease.

    PubMed

    Onyekwere, O C; Campbell, A; Teshome, M; Onyeagoro, S; Sylvan, C; Akintilo, A; Hutchinson, S; Ensing, G; Gaskin, P; Kato, G; Rana, S; Kwagyan, J; Gordeuk, V; Williams, J; Castro, O

    2008-03-01

    The prevalence of pulmonary hypertension (PHTN) in the pediatric sickle cell disease (SCD) population is not known despite its high prevalence in adult patients. Our hypothesis was that increased pulmonary artery pressures (PAPs) would be found in SCD children and adolescents, especially those with a history of pulmonary complications: acute chest syndrome, obstructive sleep apnea, asthma, and reactive airway disease. Fifty-two SCD children, 23 of whom had underlying pulmonary disease, were screened for PHTN, which was defined as a tricuspid regurgitant jet velocity (TRV) of at least 2.5 m/s. Twenty-four (46.15%) SCD patients had increased PAP (i.e., TRV > or =2.5 m/s), and 6 (11.5%) had significant PHTN (i.e., TRV > or =3.0 m/s). Pulmonary disease was marginally associated with PHTN (odds ratio 2.80 and confidence interval 0.88 to 8.86; p = 0.0795). As in adult SCD patients with PHTN, this complication was correlated with the degree of hemolysis as manifested by significantly higher lactate dehydrogenase and bilirubin, lower hemoglobin and hematocrit levels, and a strong association with Hb-SS phenotype. However, after statistical adjustment for age and sex, increased serum LDH was not associated with the development of PHTN. Further studies are needed to clarify the prevalence and mechanisms of PHTN in pediatric and adolescent patients with SCD. PMID:17680298

  14. Natural antiband 3 antibodies in patients with sickle cell disease.

    PubMed

    Villaescusa, Rinaldo; Arce, Ada Amalia; Lalanne-Mistrih, Marie-Laure; Lamarre, Yann; Hierso, Régine; Hernández, Carlos; Hardy-Dessources, Marie-Dominique

    2013-03-01

    Band 3 oligomers, precociously formed in the membrane of sickle red blood cells (SS RBC) as a result of oxidative damage, induce two significant changes: (1) contribution to the adhesive nature of these cells to endothelial cells; (2) production of recognition sites for natural antiband 3 antibodies (antiband 3 Nabs). The inhibition of the adhesion of SS RBC to endothelial cells by band 3 peptides suggests a participation of antiband 3 Nabs in the etiology and prevention of vaso-occlusive crises (VOC). To address this question, we measured the levels of antiband 3 Nabs in sickle cell anaemia (SCA) patients (45 in steady state, 35 in VOC) and in controls (27 sickle trait, 30 normal AA subjects). A significant decreased of antiband 3 Nabs in the VOC group was demonstrated as compared with the steady state group, the sickle trait and healthy controls. This study provides data suggesting that Antiband 3 Nabs are likely to play a role in the SCA VOC. PMID:23643401

  15. Relative deformability of red blood cells in sickle cell trait and sickle cell anemia by trapping and dragging

    NASA Astrophysics Data System (ADS)

    Solomon, Rance; Cooper, James; Welker, Gabriel; Aguilar, Elaura; Flanagan, Brooke; Pennycuff, Chelsey; Scott, David; Farone, Anthony; Farone, Mary; Erenso, Daniel; Mushi, Robert; del Pilar Aguinaga, Maria

    2013-06-01

    Genetic mutation of the β-globin gene or inheritance of this mutated gene changes the chemical composition of the oxygen-carrying hemoglobin molecule that could lead to either the heterozygote genotype, resulting in sickle cell trait (SCT), or the homozygote genotype, resulting in sickle cell anemia (SCA). These mutations could affect the reversible elastic deformations of the red blood cells (RBCs) which are vital for biological functions. We have investigated this effect by studying the differences in the deformability of RBCs from blood samples of an individual with SCT and an untreated patient with SCA along with hemoglobin quantitation of each blood sample. Infrared 1064 nm laser trap force along with drag shear force are used to induce deformation in the RBCs. Ultra2-High Performance Liquid Chromatography (UHPLC) is used for the hemoglobin quantitation.

  16. Cerebral blood flow in sickle cell cerebrovascular disease

    SciTech Connect

    Huttenlocher, P.R.; Moohr, J.W.; Johns, L.; Brown, F.D.

    1984-05-01

    Cerebral blood flow (CBF) has been studied by the xenon-133 (/sup 133/Xe) inhalation method in 16 children with suspected sickle cell cerebrovascular disease. Abnormalities consisting of decreases in total, hemispheral, or regional CBF were found in 17 of 26 studies. Eleven studies performed immediately after stroke, transient ischemic attack, or depression of state of alertness showed abnormalities. In addition to confirming regional cerebrovascular insufficiency in children with stroke due to major cerebral artery occlusion, the method detected diffuse decrease in CBF in children with stupor, coma, and seizures who had normal angiographic findings. In contrast, six of seven studies obtained after exchange transfusion or during maintenance on hypertransfusion therapy showed normal findings. The difference between results in patients with acute neurologic disturbances and those receiving transfusion therapy was statistically significant (P less than .005). The data indicate that the /sup 133/Xe method reliably demonstrates cerebrovascular impairment in sickle cell disease. They also suggest that CBF changes in patients with sickle cell disease can be reversed by exchange transfusion and by hypertransfusion therapy. The /sup 133/Xe CBF method may be useful for following up children with sickle cell disease who are at high risk for recurrent stroke.

  17. Quantifying the abnormal hemodynamics of sickle cell anemia

    NASA Astrophysics Data System (ADS)

    Lei, Huan; Karniadakis, George

    2012-02-01

    Sickle red blood cells (SS-RBC) exhibit heterogeneous morphologies and abnormal hemodynamics in deoxygenated states. A multi-scale model for SS-RBC is developed based on the Dissipative Particle Dynamics (DPD) method. Different cell morphologies (sickle, granular, elongated shapes) typically observed in deoxygenated states are constructed and quantified by the Asphericity and Elliptical shape factors. The hemodynamics of SS-RBC suspensions is studied in both shear and pipe flow systems. The flow resistance obtained from both systems exhibits a larger value than the healthy blood flow due to the abnormal cell properties. Moreover, SS-RBCs exhibit abnormal adhesive interactions with both the vessel endothelium cells and the leukocytes. The effect of the abnormal adhesive interactions on the hemodynamics of sickle blood is investigated using the current model. It is found that both the SS-RBC - endothelium and the SS-RBC - leukocytes interactions, can potentially trigger the vicious ``sickling and entrapment'' cycles, resulting in vaso-occlusion phenomena widely observed in micro-circulation experiments.

  18. Cardiac manifestations of sickle cell anaemia in Sudanese children

    PubMed Central

    Ali, Ghada O. M.; Abdal Gader, Yahya S.; Abuzedi, Elfatih S.; Attalla, Bakhieta A. I.

    2012-01-01

    Sickle cell anaemia (SCA) is one of the commonest chronic hemolytic anaemias in the Sudan; it is a disease with high mortality and morbidity. This study was conducted aiming to observe the clinical pattern of cardiac abnormalities in children with sickle cell anaemia, and to assess the relationship between the cardiac abnormalities and the severity of the disease. The study was conducted in sickle cell disease clinic at Khartoum Children Emergency Hospital. The study group consisted of 289 patients with sickle cell anaemia, age range from 6 months to 18 years. Data were collected using a questionnaire which include full history, clinical examination findings, chest x-rays, and Electro-cardiography. Tachycardia, systolic murmurs, and cardiomegaly were detected in 28%, 61%, and 54% of patients with SCA respectively. Left ventricular dilatation was observed in 51% of the study group, while right ventricular dilatation was observed in 22% of the patients. Left and right atrial dilatations were observed in 16% and 6% of the patients respectively. Contractility, ejection fraction (EF) were found almost always normal in all study subjects. Chamber dilatations were not associated with any abnormality in Left ventricular functions. Hemglobin (Hb) levels correlated negatively with cardiomegaly. Left Ventricular End Diastolic Dimension (LVEDD) correlates negatively with Hb levels and positively with the severity index. Only four patients (1%) had abnormal valves. In conclusion, cardiac abnormalities in patients with SCA correlate with the age of the patients and the severity of the disease. PMID:27493331

  19. Cardiac manifestations of sickle cell anaemia in Sudanese children.

    PubMed

    Ali, Ghada O M; Abdal Gader, Yahya S; Abuzedi, Elfatih S; Attalla, Bakhieta A I

    2012-01-01

    Sickle cell anaemia (SCA) is one of the commonest chronic hemolytic anaemias in the Sudan; it is a disease with high mortality and morbidity. This study was conducted aiming to observe the clinical pattern of cardiac abnormalities in children with sickle cell anaemia, and to assess the relationship between the cardiac abnormalities and the severity of the disease. The study was conducted in sickle cell disease clinic at Khartoum Children Emergency Hospital. The study group consisted of 289 patients with sickle cell anaemia, age range from 6 months to 18 years. Data were collected using a questionnaire which include full history, clinical examination findings, chest x-rays, and Electro-cardiography. Tachycardia, systolic murmurs, and cardiomegaly were detected in 28%, 61%, and 54% of patients with SCA respectively. Left ventricular dilatation was observed in 51% of the study group, while right ventricular dilatation was observed in 22% of the patients. Left and right atrial dilatations were observed in 16% and 6% of the patients respectively. Contractility, ejection fraction (EF) were found almost always normal in all study subjects. Chamber dilatations were not associated with any abnormality in Left ventricular functions. Hemglobin (Hb) levels correlated negatively with cardiomegaly. Left Ventricular End Diastolic Dimension (LVEDD) correlates negatively with Hb levels and positively with the severity index. Only four patients (1%) had abnormal valves. In conclusion, cardiac abnormalities in patients with SCA correlate with the age of the patients and the severity of the disease. PMID:27493331

  20. Sickle cell disease: old discoveries, new concepts, and future promise

    PubMed Central

    Frenette, Paul S.; Atweh, George F.

    2007-01-01

    The discovery of the molecular basis of sickle cell disease was an important landmark in molecular medicine. The modern tools of molecular and cellular biology have refined our understanding of its pathophysiology and facilitated the development of new therapies. In this review, we discuss some of the important advances in this field and the impediments that limit the impact of these advances. PMID:17404610

  1. The Cognitive and Academic Impact of Sickle Cell Disease

    ERIC Educational Resources Information Center

    Day, Sara; Chismark, Elisabeth

    2006-01-01

    Sickle cell disease (SCD) affects over 30,000 students in the United States. Central nervous system complications are widespread among students with SCD and include stroke, silent cerebral infarction, and cognitive impairment. The effects of these complications may lead to academic failure, limited career options, and for some, total disability.…

  2. Malevolent ogbanje: recurrent reincarnation or sickle cell disease?

    PubMed

    Nzewi, E

    2001-05-01

    The Igbo of Nigeria believe that everyone is ogbanje (reincarnates) but malevolent ogbanje differ from others in being revenge-driven, chronically ill and engaging in repeated cycles of birth, death and reincarnation. This study examined culturally defined symptoms of 100 children classified as malevolent ogbanje; and investigated their family history and child mortality experience. There was concordance between cultural descriptions of malevolent ogbanje and symptoms as manifested in sickle cell patients. Hemoglobin analysis showed that 70 of the 100 children had sickle cell disease (SCD); while 68 families had death-related names. The symptoms associated with Igbo cases of reincarnation, high child mortality rates, and the high prevalence of sickle cell disease among children classified as malevolent ogbanje all support the conclusion that the symptomatology and early mortality experience are related to sickle cell. Names with themes of death were prevalent in families of children described as malevolent ogbanje. The findings are discussed with reference to cultural resistance to SCD as an explanation for malevolent ogbanje and the implications for the health care of children with SCD in Nigeria. PMID:11286364

  3. Academic Attainment Findings in Children with Sickle Cell Disease

    ERIC Educational Resources Information Center

    Epping, Amanda S.; Myrvik, Matthew P.; Newby, Robert F.; Panepinto, Julie A.; Brandow, Amanda M.; Scott, J. Paul

    2013-01-01

    Background: Children with sickle cell disease (SCD) demonstrate deficits in cognitive and academic functioning. This study compared the academic attainment of children with SCD relative to national, state, and local school district rates for African American students. Methods: A retrospective chart review of children with SCD was completed and…

  4. Fetal hemoglobin in sickle cell anemia: a glass half full?

    PubMed

    Steinberg, Martin H; Chui, David H K; Dover, George J; Sebastiani, Paola; Alsultan, Abdulrahman

    2014-01-23

    Fetal hemoglobin (HbF) modulates the phenotype of sickle cell anemia by inhibiting deoxy sickle hemoglobin (HbS) polymerization. The blood concentration of HbF, or the number of cells with detectable HbF (F-cells), does not measure the amount of HbF/F-cell. Even patients with high HbF can have severe disease because HbF is unevenly distributed among F-cells, and some cells might have insufficient concentrations to inhibit HbS polymerization. With mean HbF levels of 5%, 10%, 20%, and 30%, the distribution of HbF/F-cell can greatly vary, even if the mean is constant. For example, with 20% HbF, as few as 1% and as many as 24% of cells can have polymer-inhibiting, or protective, levels of HbF of ∼10 pg; with lower HbF, few or no protected cells can be present. Only when the total HbF concentration is near 30% is it possible for the number of protected cells to approach 70%. Rather than the total number of F-cells or the concentration of HbF in the hemolysate, HbF/F-cell and the proportion of F-cells that have enough HbF to thwart HbS polymerization is the most critical predictor of the likelihood of severe sickle cell disease. PMID:24222332

  5. Sickle Cell Disease Pain: 2. Predicting Health Care Use and Activity Level at 9-Month Follow-Up.

    ERIC Educational Resources Information Center

    Gil, Karen M.; And Others

    1992-01-01

    Studied adults with sickle cell disease (SCD) participating in longitudinal study of pain-coping strategies. Eighty-nine subjects completed baseline assessment of pain-coping strategies and structured pain interviews assessing health care use and activity reduction during painful episodes. Baseline Negative Thinking and Passive Adherence were…

  6. Determinants of resting cerebral blood flow in sickle cell disease.

    PubMed

    Bush, Adam M; Borzage, Matthew T; Choi, Soyoung; Václavů, Lena; Tamrazi, Benita; Nederveen, Aart J; Coates, Thomas D; Wood, John C

    2016-09-01

    Stroke is common in children with sickle cell disease and results from an imbalance in oxygen supply and demand. Cerebral blood flow (CBF) is increased in patients with sickle cell disease to compensate for their anemia, but adequacy of their oxygen delivery has not been systematically demonstrated. This study examined the physiological determinants of CBF in 37 patients with sickle cell disease, 38 ethnicity matched control subjects and 16 patients with anemia of non-sickle origin. Cerebral blood flow was measured using phase contrast MRI of the carotid and vertebral arteries. CBF increased inversely to oxygen content (r(2)  = 0.69, P < 0.0001). Brain oxygen delivery, the product of CBF and oxygen content, was normal in all groups. Brain composition, specifically the relative amounts of grey and white matter, was the next strongest CBF predictor, presumably by influencing cerebral metabolic rate. Grey matter/white matter ratio and CBF declined monotonically until the age of 25 in all subjects, consistent with known maturational changes in brain composition. Further CBF reductions were observed with age in subjects older than 35 years of age, likely reflecting microvascular aging. On multivariate regression, CBF was independent of disease state, hemoglobin S, hemoglobin F, reticulocyte count and cell free hemoglobin, suggesting that it is regulated similarly in patients and control subjects. In conclusion, sickle cell disease patients had sufficient oxygen delivery at rest, but accomplish this only by marked increases in their resting CBF, potentially limiting their ability to further augment flow in response to stress. Am. J. Hematol. 91:912-917, 2016. © 2016 Wiley Periodicals, Inc. PMID:27263497

  7. Environmental determinants of severity in sickle cell disease.

    PubMed

    Tewari, Sanjay; Brousse, Valentine; Piel, Frédéric B; Menzel, Stephan; Rees, David C

    2015-09-01

    Sickle cell disease causes acute and chronic illness, and median life expectancy is reduced by at least 30 years in all countries, with greater reductions in low-income countries. There is a wide spectrum of severity, with some patients having no symptoms and others suffering frequent, life-changing complications. Much of this variability is unexplained, despite increasingly sophisticated genetic studies. Environmental factors, including climate, air quality, socio-economics, exercise and infection, are likely to be important, as demonstrated by the stark differences in outcomes between patients in Africa and USA/Europe. The effects of weather vary with geography, although most studies show that exposure to cold or wind increases hospital attendance with acute pain. Most of the different air pollutants are closely intercorrelated, and increasing overall levels seem to correlate with increased hospital attendance, although higher concentrations of atmospheric carbon monoxide may offer some benefit for patients with sickle cell disease. Exercise causes some adverse physiological changes, although this may be off-set by improvements in cardiovascular health. Most sickle cell disease patients live in low-income countries and socioeconomic factors are undoubtedly important, but little studied beyond documenting that sickle cell disease is associated with decreases in some measures of social status. Infections cause many of the differences in outcomes seen across the world, but again these effects are relatively poorly understood. All the above factors are likely to account for much of the pathology and variability of sickle cell disease, and large prospective studies are needed to understand these effects better. PMID:26341524

  8. Community Health Workers as Support for Sickle Cell Care.

    PubMed

    Hsu, Lewis L; Green, Nancy S; Donnell Ivy, E; Neunert, Cindy E; Smaldone, Arlene; Johnson, Shirley; Castillo, Sheila; Castillo, Amparo; Thompson, Trevor; Hampton, Kisha; Strouse, John J; Stewart, Rosalyn; Hughes, TaLana; Banks, Sonja; Smith-Whitley, Kim; King, Allison; Brown, Mary; Ohene-Frempong, Kwaku; Smith, Wally R; Martin, Molly

    2016-07-01

    Community health workers are increasingly recognized as useful for improving health care and health outcomes for a variety of chronic conditions. Community health workers can provide social support, navigation of health systems and resources, and lay counseling. Social and cultural alignment of community health workers with the population they serve is an important aspect of community health worker intervention. Although community health worker interventions have been shown to improve patient-centered outcomes in underserved communities, these interventions have not been evaluated with sickle cell disease. Evidence from other disease areas suggests that community health worker intervention also would be effective for these patients. Sickle cell disease is complex, with a range of barriers to multifaceted care needs at the individual, family/friend, clinical organization, and community levels. Care delivery is complicated by disparities in health care: access, delivery, services, and cultural mismatches between providers and families. Current practices inadequately address or provide incomplete control of symptoms, especially pain, resulting in decreased quality of life and high medical expense. The authors propose that care and care outcomes for people with sickle cell disease could be improved through community health worker case management, social support, and health system navigation. This paper outlines implementation strategies in current use to test community health workers for sickle cell disease management in a variety of settings. National medical and advocacy efforts to develop the community health workforce for sickle cell disease management may enhance the progress and development of "best practices" for this area of community-based care. PMID:27320471

  9. Sickle cell disease in the Kurdish population of northern Iraq.

    PubMed

    Al-Allawi, Nasir A S; Jalal, Sana D; Nerwey, Farida F; Al-Sayan, Galawezh O O; Al-Zebari, Sahima S M; Alshingaly, Awny A; Markous, Raji D; Jubrael, Jaladet M S; Hamamy, Hanan

    2012-01-01

    Epidemiological studies have revealed that sickle cell disease patients are clustered in two geographical areas in Iraq, one among the Arabs in the extreme south, another among the Kurdish population in the extreme north, where they constitute major health problems. However, no studies have focused on the genotypes responsible for sickle cell disease or the β-globin gene haplotypes associated with it. For the latter purpose, a total of 103 unrelated Kurdish sickle cell disease patients were evaluated by restriction fragment length polymorphism (RFLP) for the sickle cell mutation, followed by multiplex polymerase chain reaction (PCR) and reverse hybridization for β- and α-thalassemia (β- and α-thal) mutations, whenever indicated. Results showed that the most common genotype was sickle cell anemia (68.0%) followed by Hb S/β(0)-thal and Hb S/β(+)-thal at frequencies of 24.2 and 7.8%, respectively. Eight β-thal mutations were associated with the latter two genotypes including: IVS-II-1 (G>A), IVS-I-110 (G>A), codon 8 (-AA), codon 44 (-C), codon 22 (-7 bp), IVS-I-1 (G>A), codon 30 (G>C) and IVS-I-6 (T>C). In Hb SS patients, the -α(3.7) deletion was documented in 10.0% and was the only α-thal mutation detected. Furthermore, 5' β-globin gene cluster haplotyping of 128 β(S) chromosomes revealed that the most common haplotype seen in 69.5% was the Benin haplotype, followed by the Arab-Indian haplotype in 12.5%. These latter findings closely resemble reports from neighboring Turkey, Syria, Jordan, Lebanon and Mediterranean countries, suggesting a possible common origin, but are in contrast to findings from the Eastern Arabian Peninsula and Iran. PMID:22686351

  10. Environmental determinants of severity in sickle cell disease

    PubMed Central

    Tewari, Sanjay; Brousse, Valentine; Piel, Frédéric B.; Menzel, Stephan; Rees, David C.

    2015-01-01

    Sickle cell disease causes acute and chronic illness, and median life expectancy is reduced by at least 30 years in all countries, with greater reductions in low-income countries. There is a wide spectrum of severity, with some patients having no symptoms and others suffering frequent, life-changing complications. Much of this variability is unexplained, despite increasingly sophisticated genetic studies. Environmental factors, including climate, air quality, socio-economics, exercise and infection, are likely to be important, as demonstrated by the stark differences in outcomes between patients in Africa and USA/Europe. The effects of weather vary with geography, although most studies show that exposure to cold or wind increases hospital attendance with acute pain. Most of the different air pollutants are closely intercorrelated, and increasing overall levels seem to correlate with increased hospital attendance, although higher concentrations of atmospheric carbon monoxide may offer some benefit for patients with sickle cell disease. Exercise causes some adverse physiological changes, although this may be off-set by improvements in cardiovascular health. Most sickle cell disease patients live in low-income countries and socioeconomic factors are undoubtedly important, but little studied beyond documenting that sickle cell disease is associated with decreases in some measures of social status. Infections cause many of the differences in outcomes seen across the world, but again these effects are relatively poorly understood. All the above factors are likely to account for much of the pathology and variability of sickle cell disease, and large prospective studies are needed to understand these effects better. PMID:26341524

  11. "I Have Sickle Cell Disease, But Sickle Cell Doesn't Have Me" | NIH MedlinePlus the Magazine

    MedlinePlus

    ... being sick. So, I do everything in my power to stay healthy. I take my medicines every day without fail. I don't smoke and never will. I do eat fairly healthy. On living a great life with sickle cell disease: Life right now is great. I'm healthy; I'm a ...

  12. Concerted global effort to combat sickle cell disease: the first global congress on sickle cell disease in Accra, Ghana.

    PubMed

    Odame, Isaac; Kulkarni, Roshni; Ohene-Frempong, Kwaku

    2011-12-01

    The First Global Congress on Sickle Cell Disease was held in Accra, Ghana, on July 20-23, 2010, to commemorate 100 years since the first published report of sickle cell disease (SCD). The idea of the Global Congress was conceived following the 2007 meeting in Nicosia, Cyprus, jointly organized by the WHO and the Thalassaemia International Federation (TIF), which recommended that groups working in SCD around the world needed to consolidate efforts into a stronger and more unified umbrella organization. The need for a united global effort received further endorsements at the 2009 International Symposium and Workshop held in Cotonou, Benin, and the 2009 inaugural commemoration of World Sickle Cell Disease Awareness Day, UN Headquarters, New York, New York. The overall goals of the Global Congress were to promote international cooperation and foster collaboration in advancing clinical care and furthering basic and applied research in SCD. Issues covered at the conference included health education, psychosocial needs, public health, medical care, research, program development, and development of international community-based organizations. The Congress participants included medical and research scientists, public health officials, community-based SCD organizations, other nongovernmental organizations, and people with SCD and their families. The Congress concluded with a call on patients and families affected by SCD, as well as advocacy groups, healthcare professionals, scientists, and national governments working to combat SCD to endorse the formation of the World Sickle Cell Disease Federation. PMID:22099367

  13. A Call for Policy Action in Sub-Saharan Africa to Rethink Diagnostics for Pregnancy Affected by Sickle Cell Disease: Differential Views of Medical Doctors, Parents and Adult Patients Predict Value Conflicts in Cameroon

    PubMed Central

    Hurst, Samia

    2014-01-01

    Abstract Sickle cell disease (SCD) is a debilitating illness that affects the life expectancy of patients. It is possible to test for SCD before birth, to allow for reproductive options to parents. However, under Cameroonian Law, voluntary abortion is a criminal offense and medical abortion is permitted only “…if it is done by an authorized professional and justified by the need to save the mother from grave health jeopardy.” The objective of the present study was to compare the views of Cameroonian doctors, parents with at least one living SCD-affected child, and adult SCD patients, regarding prenatal genetic diagnosis and termination of SCD-affected pregnancy. We conducted a quantitative sociological survey of 110 doctors, 130 parents, and 89 adult patients. The majority accepted the prenatal genetic diagnosis for SCD (78.7%, 89.8%, and 89.2%, respectively). Parents (62.5%) were more in favor of termination of SCD-affected pregnancy, than doctors and adults patients (36.1% and 40.9% acceptance, respectively). Parents and patients who found medical abortion acceptable cited fear to have a SCD-affected child (98.1 and 88.9%) and the poor quality of the affected child's health (92.6% and 81.5%). The data underscore the urgency of policy action to place emphasis on: premarital screening, early detection and care of SCD, socio-economic measures to assist SCD-affected families, appropriateness to consider maternal distress due to fetal anomalies in medical abortion legislation. These novel findings signal potential value-based conflicts on the horizon, and can usefully inform the future policy actions in the African continent as OMICS biotechnologies are increasingly employed in global health. To the best of our knowledge, the present study is the first attempt in sub-Saharan Africa to attempt to triangulate the views of multiple stakeholders towards prenatal diagnosis of SCD and termination of an affected pregnancy. PMID:24754796

  14. Sickle cell disease in tribal populations in India

    PubMed Central

    Colah, Roshan B.; Mukherjee, Malay B.; Martin, Snehal; Ghosh, Kanjaksha

    2015-01-01

    The sickle gene is widespread among many tribal population groups in India with prevalence of heterozygotes varying from 1-40 per cent. Co-inheritance of the sickle gene with β-thalassaemia, HbD Punjab and glucose-6-phosphate dehydrogenase (G6PD) deficiency has also been reported. Most of the screening programmes in India now use high performance liquid chromatography (HPLC) analysis although the solubility test is also sensitive and cheap. Sickle cell disease (SCD) among tribal populations is generally milder than among non-tribal groups with fewer episodes of painful crises, infections, acute chest syndrome and need for hospitalization. This has partly been attributed to the very high prevalence of α-thalassaemia among these tribes as well as higher foetal haemoglobin levels. However, the clinical presentation is variable with many cases having a severe presentation. There is not much information available on maternal and perinatal outcome in tribal women with sickle cell disease. Newborn screening programmes for SCD have recently been initiated in Maharashtra, Gujarat, Odisha and Chattisgarh and monitoring these birth cohorts will help to understand the natural history of SCD in India. Prenatal diagnosis is acceptable by tribal families in India. The Indian Council of Medical Research and the National Rural Health Mission in different States are undertaking outreach programmes for better management and control of the disease. PMID:26139766

  15. Attenuating a sickle cell crisis with annexin V.

    PubMed

    Kennedy, James Randall

    2015-05-01

    A sickle cell crisis is a painful and dangerous condition that defies effective treatment but fortunately it usually terminates spontaneously and patients spend far more time crisis free than in its painful throes. This suggests that an unstable physiologic balance exists between steady state sickle cell disease (SCD) and the crisis state and if this is so a therapeutic nudge during a crisis may help to terminate it. Annexin V may be able to provide this push. The phosphatidylserine (PS) molecules normally appear on the surface of senescent erythrocytes where they are recognized by macrophages and rapidly removed so that normally only about 1% are present in the circulation but in SCD 30-40% are prematurely senescent and their removal is delayed. The PS+ sickle erythrocytes remaining in the circulation adhere to the endothelium and their exposed PS acts as a platform for the initiation of the coagulation cascade that is responsible for clot propagation. Annexin V's great affinity for PS allows it to bond to it forming a shield that blocks both of these actions suggesting that its therapeutic administration during a sickle crisis may be able to hasten its termination. PMID:25665862

  16. Investigation of Sickle-Cell Haemoglobin Polymerisation under Electrochemical Control

    PubMed Central

    Iqbal, Zeshan; Li, Matthew; McKendry, Rachel; Horton, Michael; Caruana, Daren J

    2013-01-01

    We describe an electrochemistry-based technique to control and monitor the polymerisation of sickle-cell haemoglobin (HbS). The polymerisation was monitored as a change in turbidity during the depletion of oxygen in a small volume custom-built thin-layer electrochemical cell. The cell allowed the investigation of HbS polymerisation as a function of HbS concentration, temperature and solution pH. We confirm that the oxygen was efficiently depleted using finite-element modelling to accurately recreate the electrochemical thin-layer cell. Understanding the nucleation and growth of HbS polymerisation will provide a better understanding of the pathophysiology of sickle-cell disease in vivo, and thus help improve therapeutic strategies for this common and frequently disabling disorder. PMID:23703945

  17. Sickle cell anemia, the first molecular disease: overview of molecular etiology, pathophysiology, and therapeutic approaches.

    PubMed

    Steinberg, Martin H

    2008-01-01

    The root cause of sickle cell disease is a single beta-globin gene mutation coding for the sickle beta-hemoglobin chain. Sickle hemoglobin tetramers polymerize when deoxygenated, damaging the sickle erythrocyte. A multifaceted pathophysiology, triggered by erythrocyte injury induced by the sickle hemoglobin polymer, and encompassing more general cellular and tissue damage caused by hypoxia, oxidant damage, inflammation, abnormal intracellular interactions, and reduced nitric oxide bioavailability, sets off the events recognized clinically as sickle cell disease. This disease is a group of related disorders where sickle hemoglobin is the principal hemoglobin species. All have varying degrees of chronic hemolytic anemia, vasculopathy, vasoocclusive disease, acute and chronic organ damage, and shortened life span. Its complex pathophysiology, of which we have a reasonable understanding, provides multiple loci for potential therapeutic intervention. PMID:19112541

  18. Immunologic Effects of Hydroxyurea in Sickle Cell Anemia

    PubMed Central

    Lederman, Howard M.; Connolly, Margaret A.; Kalpatthi, Ram; Ware, Russell E.; Wang, Winfred C.; Luchtman-Jones, Lori; Waclawiw, Myron; Goldsmith, Jonathan C.; Swift, Andrea

    2014-01-01

    BACKGROUND AND OBJECTIVE: Susceptibility to encapsulated bacteria is well known in sickle cell disease (SCD). Hydroxyurea use is common in adults and children with SCD, but little is known about hydroxyurea’s effects on immune function in SCD. Because hydroxyurea inhibits ribonucleotide reductase, causing cell cycle arrest at the G1–S interface, we postulated that hydroxyurea might delay transition from naive to memory T cells, with inhibition of immunologic maturation and vaccine responses. METHODS: T-cell subsets, naive and memory T cells, and antibody responses to pneumococcal and measles, mumps, and rubella vaccines were measured among participants in a multicenter, randomized, double-blind, placebo-controlled trial of hydroxyurea in infants and young children with SCD (BABY HUG). RESULTS: Compared with placebo, hydroxyurea treatment resulted in significantly lower total lymphocyte, CD4, and memory T-cell counts; however, these numbers were still within the range of historical healthy controls. Antibody responses to pneumococcal vaccination were not affected, but a delay in achieving protective measles antibody levels occurred in the hydroxyurea group. Antibody levels to measles, mumps, and rubella showed no differences between groups at exit, indicating that effective immunization can be achieved despite hydroxyurea use. CONCLUSIONS: Hydroxyurea does not appear to have significant deleterious effects on the immune function of infants and children with SCD. Additional assessments of lymphocyte parameters of hydroxyurea-treated children may be warranted. No changes in current immunization schedules are recommended; however, for endemic disease or epidemics, adherence to accelerated immunization schedules for the measles, mumps, and rubella vaccine should be reinforced. PMID:25180279

  19. Hematopoietic cell transplantation: a curative option for sickle cell disease.

    PubMed

    Krishnamurti, Lakshmanan

    2007-12-01

    Sickle cell disease is associated with considerable morbidity and premature mortality. Hematopoietic cell transplantation offers the possibility of cure and is associated with excellent results in pediatric patients receiving stem cell transplantation from a matched sibling donor. Reduced intensity conditioning regimen have the potential to further reduce regimen related morbidity and mortality. Improved understanding of the natural history of complications such as stroke and pulmonary hypertension, effects of treatments, such as hydroxyurea and blood transfusions, as well as the impact of transplantation on organ damage are likely to influence the timing and indication of transplantation. Improvements in preparative regimen may enable the safe use of alternate source of stem cells such as unrelated matched donors and further improve the applicability and acceptability of this treatment. PMID:18092247

  20. Transition Needs of Adolescents With Sickle Cell Disease

    PubMed Central

    Abel, Regina A.; Cho, Esther; Chadwick-Mansker, Kelley R.; D’Souza, Natalia; Housten, Ashley J.

    2015-01-01

    OBJECTIVE. This article describes how adolescents with sickle cell disease (SCD) perceive their ability to perform everyday tasks required for transition to adult health care and independent living. METHOD. The Adolescent Autonomy Checklist (AAC) was adapted to include skills associated with managing SCD (AAC–SCD) and was administered to adolescents during clinic visits. Participants indicated “can do already” or “needs practice” for 100 activities in 12 categories. RESULTS. Of 122 patients, the percentage of adolescents who needed practice was greatest in living arrangements (38.7%), money management (35.8%), vocational skills (29.6%), and health care skills (25.5%). We found a significant effect of age and of cerebrovascular injury on the percentage of those who reported “needs practice” in multiple categories. We found no effect of gender and limited effect of hemoglobin phenotype on any skill category. CONCLUSION. Findings support the need for educational intervention to improve transition skills in adolescents with SCD. PMID:26122692

  1. Chronic Opioid Therapy and Central Sensitization in Sickle Cell Disease.

    PubMed

    Carroll, C Patrick; Lanzkron, Sophie; Haywood, Carlton; Kiley, Kasey; Pejsa, Megan; Moscou-Jackson, Gyasi; Haythornthwaite, Jennifer A; Campbell, Claudia M

    2016-07-01

    Chronic opioid therapy (COT) for chronic non-cancer pain is frequently debated, and its effectiveness is unproven in sickle cell disease (SCD). The authors conducted a descriptive study among 83 adult SCD patients and compared the severity of disease and pain symptoms among those who were prescribed COT (n=29) with those who were not using COT. All patients completed baseline laboratory pain assessment and questionnaires between January 2010 and June 2014. Thereafter, participants recorded daily pain, crises, function, and healthcare utilization for 90 days using electronic diaries. Analyses were conducted shortly after the final diary data collection period. Patients on COT did not differ on age, sex, or measures of disease severity. However, patients on COT exhibited greater levels of clinical pain (particularly non-crisis); central sensitization; and depression and increased diary measures of pain severity, function, and healthcare utilization on crisis and non-crisis diary days, as well as a greater proportion of days in crisis. Including depressive symptoms in multivariate models did not change the associations between COT and pain, interference, central sensitization, or utilization. Additionally, participants not on COT displayed the expected positive relationship between central sensitization and clinical pain, whereas those on COT demonstrated no such relationship, despite having both higher central sensitization and higher clinical pain. Overall, the results point out a high symptom burden in SCD patients on COT, including those on high-dose COT, and suggest that nociceptive processing in SCD patients on COT differs from those who are not. PMID:27320469

  2. Developmental Function in Toddlers With Sickle Cell Anemia

    PubMed Central

    Elkin, T. David; Brown, R. Clark; Glass, Penny; Rana, Sohail; Casella, James F.; Kalpatthi, Ram V.; Pavlakis, Steven; Mi, Zhibao; Wang, Winfred C.

    2013-01-01

    BACKGROUND: Neurocognitive impairment occurs in children and adults with sickle cell anemia, but little is known about neurodevelopment in very young children. We examined the neurodevelopmental status of infants participating in the Pediatric Hydroxyurea Phase III Clinical Trial (Baby Hug) to determine relationships with age, cerebral blood flow velocity, and hemoglobin concentration. METHODS: Standardized measures of infant neurodevelopment were administered to 193 infants with hemoglobin SS or hemoglobin S-β0 thalassemia between 7 and 18 months of age at the time of their baseline evaluation. Associations between neurodevelopmental scores and age, family income, parent education, hemoglobin concentration, and transcranial Doppler velocity were examined. RESULTS: Mean functioning on the baseline neurodevelopment scales was in the average range. There were no mental development scores <70 (impaired); 22 children had scores in the clinically significant range, 11 with impaired psychomotor scores and 11 with problematic behavior rating scores. Significantly poorer performance was observed with older age at baseline. Behavior rating scores were an average of 2.82 percentile points lower per month of age, with similar patterns observed with parent report using adaptive behavior scales. Parent-reported functional abilities and hemoglobin were negatively associated with higher transcranial Doppler velocities. CONCLUSIONS: Whereas overall functioning was in the normal range, behavioral and adaptive function was poorer with older age, even in this very young group of children. Explanatory mechanisms for this association between poorer developmental function and older age need to be identified. PMID:23296434

  3. In vitro microfluidic model of sickle cell disease

    NASA Astrophysics Data System (ADS)

    Wood, D. K.; Higgins, J. M.; Mahadevan, L.; Bhatia, S. N.

    2010-03-01

    The pathophysiology of sickle cell disease is complicated by the multiscale processes that link the molecular genotype to the organismal phenotype: hemoglobin polymerization occurring in milliseconds, microscopic cellular sickling in a few seconds or less, and macroscopic vessel occlusion over a time scale of minutes. The rheology of sickle blood, which captures many of these processes, can be studied in vitro using physical tools and insights. We present a minimal microfluidic device in which blood flow dynamics can be directly manipulated by modulating physical factors such as oxygen concentration, capillary size, and fluid shear. We have used this system to map out the phase space of blood flow with respect to a combination of geometric, physical, chemical, and biological parameters. We show that morphological changes in erythrocytes due to sickle hemoglobin polymerization and melting are alone sufficient to change blood rheology. We characterize whole blood from many patients in this device and correlate in vitro performance to clinical outcomes, suggesting the potential utility of such a device for patient monitoring. Our experimental study integrates the dynamics of many of the processes associated with vasoocclusion and provides a potential tool for optimizing and individualizing treatment, and identifying new therapies.

  4. Buccal Micronucleus Cytome Assay in Sickle Cell Disease

    PubMed Central

    Naga, Mallika Bokka Sri Satya; Gour, Shreya; Nallagutta, Nalini; Velidandla, Surekha; Manikya, Sangameshwar

    2016-01-01

    Introduction Sickle Cell Anaemia (SCA) is a commonly inherited blood disorder preceded by episodes of pain, chronic haemolytic anaemia and severe infections. The underlying phenomenon which causes this disease is the point mutation in the haemoglobin beta gene (Hbβ) found on chromosome 11 p. Increased oxidative stress leads to DNA damage. DNA damage occurring in such conditions can be studied by the buccal micronucleus cytome assay, which is a minimally invasive method for studying chromosomal instability, cell death and regenerative potential of human buccal tissue. Aim To evaluate genomic instability in patients with sickle cell disease by buccal micronucleus cytome assay. Materials and Methods The study included 40 sickle cell anemia patients (Group A) and 40 age and sex matched controls (Group B). Buccal swabs were collected and stained with Papanicolaou (PAP). Number of cells with micronucleus, binuclei, nuclear bud, pyknosis and karyolysis were counted in two groups as parameters for the evaluation of genome stability. Results All the analysis was done using t-test. A p-value of <0.001 was considered statistically significant. There was a statistically significant increase in micronuclei number in SCA patients when compared with controls. Karyolytic (un-nucleated) cell number in Group A was more than to those of the controls. Conclusion The results might suggest that patients with sickle cell anaemia have genome instability which is represented by the presence of micronuclei in the somatic cells. Presence of apoptotic cells might only indicate the bodily damage to the tissue as a result of the disease. PMID:27504413

  5. Benign Obstetric History in Women with Sickle-cell Anaemia Associated with α-Thalassaemia

    PubMed Central

    van Enk, A.; Lang, A.; White, J. M.; Lehmann, H.

    1972-01-01

    Two Ghanaian women with sickle-cell anaemia and α-thalassaemia were found to have an unusually benign obstetric history. In addition to two factors present which are known to moderate the clinical course of sickle-cell anaemia, good socioeconomic status and a relatively high Hb F level, it is suggested that α-thalassaemia may act among other things by lowering the haemoglobin concentration in the red cells and thereby lowering their tendency to sickle in vivo. PMID:4642791

  6. The Role of Adenosine Signaling in Sickle Cell Therapeutics

    PubMed Central

    Field, Joshua J.; Nathan, David G.; Linden, Joel

    2014-01-01

    Recent data suggest a role for adenosine signaling in the pathogenesis of sickle cell disease (SCD). Signaling through the adenosine A2A receptor (A2AR) has demonstrated beneficial effects in SCD. Activation of A2ARs decreases inflammation in mice and patients with SCD largely by blocking activation of invariant NKT cells. Decreased inflammation may reduce the severity of vaso-occlusive crises. In contrast, adenosine signaling through the A2B receptor (A2BR) may be detrimental for patients with SCD. Priapism and the formation of sickle erythrocytes may be a consequence of A2BR activation on corpus cavernosal cells and erythrocytes, respectively. Whether adenosine signaling predominantly occurs through A2ARs or A2BRs may depend on differing levels of adenosine and disease state (steady state versus crisis). There may be opportunities to develop novel therapeutic approaches targeting A2ARs and/or A2BRs for patients with SCD. PMID:24589267

  7. Dexmedetomidine ameliorates nocifensive behavior in humanized sickle cell mice.

    PubMed

    Calhoun, Gabriela; Wang, Li; Almeida, Luis E F; Kenyon, Nicholas; Afsar, Nina; Nouraie, Mehdi; Finkel, Julia C; Quezado, Zenaide M N

    2015-05-01

    Patients with sickle cell disease (SCD) can have recurrent episodes of vaso-occlusive crises, which are associated with severe pain. While opioids are the mainstay of analgesic therapy, in some patients, increasing opioid use results in continued and increasing pain. Many believe that this phenomenon results from opioid-induced tolerance or hyperalgesia or that SCD pain involves non-opioid-responsive mechanisms. Dexmedetomidine, a specific α2-adrenoreceptor agonist, which has sedative and analgesic properties, reduces opioid requirements, and can facilitate opioid withdrawal in clinical settings. We hypothesized that dexmedetomidine would ameliorate the nociception phenotype of SCD mice. Townes and BERK SCD mice, strains known to have altered nociception phenotypes, were used in a crossover preclinical trial that measured nocifensive behavior before and after treatment with dexmedetomidine or vehicle. In a linear dose-effect relationship, over 60-min, dexmedetomidine, compared with vehicle, significantly increased hot plate latency in Townes and BERK mice (P≤0.006). In sickle, but not control mice, dexmedetomidine improved grip force, an indicator of muscle pain (P=0.002). As expected, dexmedetomidine had a sedative effect in sickle and control mice as it decreased wakefulness scores compared with vehicle (all P<0.001). Interestingly, the effects of dexmedetomidine on hot plate latency and wakefulness scores were different in sickle and control mice, i.e., dexmedetomidine-related increases in hotplate latency and decreases in wakefulness scores were significantly smaller in Townes sickle compared to control mice. In conclusion, these findings of beneficial effects of dexmedetomidine on the nociception phenotype in SCD mice might support the conduct of studies of dexmedetomidine in SCD patients. PMID:25724786

  8. Computed tomography of the spleen and liver in sickle cell disease

    SciTech Connect

    Magid, D.; Fishman, E.K.; Siegelman, S.S.

    1984-08-01

    The spleen was assessed in 10 patients with sickle cell disease studied with computed tomography (CT) for abdominal pain and/or unexplained fever. Patients with homozygous sickle cell anemia were found to have small, densely calcified spleens with occasional low-density infarcts. Five of six had hepatomegaly, and there was one case each of hepatic abscess, infarcts, and hemochromatosis. All patients with heterozygous sickle cell disease were found to have splenomegaly, with a variety of findings including acute hemorrhage, acute and chronic infarcts, rupture, and possible sequestration. It was concluded that CT is useful for evaluating the status of the spleen and liver in symptomatic patients with sickle cell disease.

  9. Validation of a Low-Cost Paper-Based Screening Test for Sickle Cell Anemia

    PubMed Central

    Piety, Nathaniel Z.; Yang, Xiaoxi; Kanter, Julie; Vignes, Seth M.; George, Alex; Shevkoplyas, Sergey S.

    2016-01-01

    Background The high childhood mortality and life-long complications associated with sickle cell anemia (SCA) in developing countries could be significantly reduced with effective prophylaxis and education if SCA is diagnosed early in life. However, conventional laboratory methods used for diagnosing SCA remain prohibitively expensive and impractical in this setting. This study describes the clinical validation of a low-cost paper-based test for SCA that can accurately identify sickle trait carriers (HbAS) and individuals with SCA (HbSS) among adults and children over 1 year of age. Methods and Findings In a population of healthy volunteers and SCA patients in the United States (n = 55) the test identified individuals whose blood contained any HbS (HbAS and HbSS) with 100% sensitivity and 100% specificity for both visual evaluation and automated analysis, and detected SCA (HbSS) with 93% sensitivity and 94% specificity for visual evaluation and 100% sensitivity and 97% specificity for automated analysis. In a population of post-partum women (with a previously unknown SCA status) at a primary obstetric hospital in Cabinda, Angola (n = 226) the test identified sickle cell trait carriers with 94% sensitivity and 97% specificity using visual evaluation (none of the women had SCA). Notably, our test permits instrument- and electricity-free visual diagnostics, requires minimal training to be performed, can be completed within 30 minutes, and costs about $0.07 in test-specific consumable materials. Conclusions Our results validate the paper-based SCA test as a useful low-cost tool for screening adults and children for sickle trait and disease and demonstrate its practicality in resource-limited clinical settings. PMID:26735691

  10. The illness of women and men with sickle cell disease: a Grounded Theory study1

    PubMed Central

    Cordeiro, Rosa Cândida; Ferreira, Silvia Lúcia; Santos, Ane Caroline da Cruz

    2015-01-01

    Objective: to understand the meanings given by women and men with sickle cell disease on the illness experience. Method: analytical study with a qualitative approach, conducted with 17 adults with sickle cell disease using the Theory Based on Data, or Grounded Theory, as theoretical-methodological referential. Data were collected between the years of 2012 and 2013, in an individual in-depth interview. All the interviews were recorded and analyzed according to the Grounded Theory comparative analysis technique. Results: data show four categories which group the experience of illness, the feelings experienced and the path to living with sickle cell disease. Conclusions: it was possible to understand that the experience was built by a process in which these people redefined the meaning of their lives, applying new directions to life and to care regarding the experience of the illness. In the context of chronic disease, the nurse's care is also seen in this study as a foundation, providing attention, directions, and guidance through the required confrontations. Understanding the experience lived by these people, it is possible to enlarge the dimensions and the essence of nursing care required throughout life. PMID:26626003

  11. Neodymium-YAG laser vitreolysis in sickle cell retinopathy

    SciTech Connect

    Hrisomalos, N.F.; Jampol, L.M.; Moriarty, B.J.; Serjeant, G.; Acheson, R.; Goldberg, M.F.

    1987-08-01

    Six patients with proliferative sickle cell retinopathy and vitreous bands were treated with the neodymium-YAG (Nd-YAG) laser to accomplish lysis of avascular traction bands or to clear the media in front of the macula. Transection of bands was possible in five of the six cases but in two of these the effect was only partial. Three cases were satisfactorily treated with the Nd-YAG laser application alone, two eventually required conventional vitreoretinal surgery, and one patient's condition stabilized despite failure of the treatment. Complications from the treatment occurred in three cases and included subretinal (choroidal) hemorrhage, preretinal hemorrhage, microperforation of a retinal vein, and focal areas of damage to the retinal pigment epithelium. Neodymium-YAG vitreolysis may be a useful modality in carefully selected patients with proliferative sickle cell retinopathy, but potentially sight-threatening complications may occur.

  12. Haplotype map of sickle cell anemia in Tunisia.

    PubMed

    Moumni, Imen; Ben Mustapha, Maha; Sassi, Sarra; Zorai, Amine; Ben Mansour, Ikbel; Douzi, Kais; Chouachi, Dorra; Mellouli, Fethi; Bejaoui, Mohamed; Abbes, Salem

    2014-01-01

    β-Globin haplotypes are important to establish the ethnic origin and predict the clinical development of sickle cell disease patients (SCD). To determine the chromosomal background of β (S) Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of β-globin cluster on chromosome 11. It is the 5' region of β-LCR-HS2 site, the intervening sequence II (IVSII) region of two fetal ((G)γ and (A)γ) genes and the 5' region of β-globin gene. The results reveal a high molecular diversity of a microsatellite configuration describing the sequences haplotypes. The linkage disequilibrium analysis showed various haplotype combinations giving 22 "extended haplotypes". These results confirm the utility of the β-globin haplotypes for population studies and contribute to knowledge of the Tunisian gene pool, as well as establishing the role of genetic markers in physiopathology of SCD. PMID:25197158

  13. Possible links between sickle cell crisis and pentavalent antimony.

    PubMed

    Garcerant, Daniel; Rubiano, Luisa; Blanco, Victor; Martinez, Javier; Baker, Nancy C; Craft, Noah

    2012-06-01

    For over 60 years, pentavalent antimony (Sb(v)) has been the first-line treatment of leishmaniasis. Sickle cell anemia is a disease caused by a defect in red blood cells, which among other things can cause vasooclusive crisis. We report the case of a 6-year-old child with leishmaniasis who during treatment with meglumine antimoniate developed a sickle cell crisis (SCC). No previous reports describing the relationship between antimonial drugs and sickle cell disease were found. Reviews of both the pathophysiology of SCC and the mechanism of action of Sb(v) revealed that a common pathway (glutathione) may have resulted in the SCC. ChemoText, a novel database created to predict chemical-protein-disease interactions, was used to perform a more expansive and systematic review that was able to support the association between glutathione, Sb(v), and SCC. Although suggestive evidence to support the hypothesis, additional research at the bench would be needed to prove Sb(v) caused the SCC. PMID:22665619

  14. Orbital wall infarction in child with sickle cell disease.

    PubMed

    Janssens, C; Claeys, L; Maes, P; Boiy, T; Wojciechowski, M

    2015-12-01

    We present the case of a 17-year-old boy, known with homozygous sickle cell disease, who was admitted because of generalised pain. He developed bilateral periorbital oedema and proptosis, without pain or visual disturbances. In addition to hyperhydration, oxygen and analgesia IV antibiotics were started, to cover a possible osteomyelitis. Patients with sickle cell disease are at risk for vaso-occlusive crises, when the abnormally shaped red blood cells aggregate and block the capillaries. Such a crisis typically presents at a location with high bone marrow activity, as the vertebrae and long bones. At an early age, the bone marrow is still active at other sites, for example the orbital wall, and thus infarction can also occur there. Thus, in young persons with sickle cell disease, it is important to consider orbital wall infarction in the differential diagnosis, since the approach is different from osteomyelitis. If the disease is complicated by an orbital compression syndrome, corticosteroids or surgical intervention may be necessary to preserve the vision. In our patient, an MRI of the orbitae demonstrated periorbital oedema with bone anomalies in the orbital and frontal bones, confirming orbital wall infarction. Ophthalmological examination revealed no signs of pressure on the nervus opticus. The patient recovered gradually with conservative treatment. PMID:26790559

  15. Short term stroke outcome is worse among indiv1iduals with sickle cell trait

    PubMed Central

    Olowoyo, P.; Owolabi, M.O.; Fawale, B.; Ogunniyi, A.

    2016-01-01

    Background Most (86%) of the global stroke mortality are from low- and middle-income countries (LMIC) including African countries which have the highest prevalence of the sickle cell trait (Hb AS). The effects of this trait on stroke occurrence and outcome are poorly understood. We aimed to investigate the effects of the sickle cell trait on the 30-day stroke mortality in Nigerian-Africans. Method This was a prospective study of 35 stroke patients with sickle cell trait (Haemoglobin AS) and 35 age and sex-matched controls without haemoglobinopathy (Haemoglobin AA). Haemoglobin electrophoresis was performed for all before recruitment and they all had neuroimaging done. Patients with haemoglobin AS were used as cases and those with haemoglobin AA as controls. The National Institute of Health Stroke Scale (NIHSS) was used to assess the severity of stroke at presentation and the Modified Rankin Scale for 30-day stroke outcome. Result There was no significant difference in the baseline stroke severity between the two groups (p = 0.21). Univariate analysis of the factors predicting the 30-day stroke outcome revealed that NIHSS score > 20 (p < 0.001), haemorrhagic stroke (p = 0.01) and the presence of Hb AS (p < 0.001) were significantly associated with 30-day mortality. Haemorrhagic stroke type was strongly associated with HbAS (OR = 2.9, 95% CI = 1.10–7.99, p-value = 0.02). With multiple logistic regression model, the presence of Hb AS (p = 0.01) and NIHSS score > 20 (p = 0.05) emerged as independent risk factors for 30-day mortality. The cases had worse stroke outcome at 30 days. Conclusion Stroke had1 a worse 30-day mortality and outcome in patients with sickle cell trait (HbAS) than in patients with normal adult haemoglobin (HbAA). PMID:27355086

  16. Musculoskeletal Manifestations of Sickle Cell Disease: A Review.

    PubMed

    Vaishya, Raju; Agarwal, Amit Kumar; Edomwonyi, Edwin O; Vijay, Vipul

    2015-01-01

    Sickle cell disease (SCD) is an inherited disorder of abnormal haemoglobin commonly encountered in the West African sub-region. It has varied osteoarticular and non-osseous complications that mimic some surgical conditions. The most common orthopaedic complications include avascular necrosis, osteomyelitis, septic arthritis, etc. A cautious and painstaking evaluation is required in handling these patients. Acute care and anaesthetic precautions are vital in ensuring an uneventful postoperative period. PMID:26623213

  17. Morphological and functional platelet abnormalities in Berkeley sickle cell mice.

    PubMed

    Shet, Arun S; Hoffmann, Thomas J; Jirouskova, Marketa; Janczak, Christin A; Stevens, Jacqueline R M; Adamson, Adewole; Mohandas, Narla; Manci, Elizabeth A; Cynober, Therese; Coller, Barry S

    2008-01-01

    Berkeley sickle cell mice are used as animal models of human sickle cell disease but there are no reports of platelet studies in this model. Since humans with sickle cell disease have platelet abnormalities, we studied platelet morphology and function in Berkeley mice (SS). We observed elevated mean platelet forward angle light scatter (FSC) values (an indirect measure of platelet volume) in SS compared to wild type (WT) (37+/-3.2 vs. 27+/-1.4, mean+/-SD; p<0.001), in association with moderate thrombocytopenia (505+/-49 x 10(3)/microl vs. 1151+/-162 x 10(3)/microl; p<0.001). Despite having marked splenomegaly, SS mice had elevated levels of Howell-Jolly bodies and "pocked" erythrocytes (p<0.001 for both) suggesting splenic dysfunction. SS mice also had elevated numbers of thiazole orange positive platelets (5+/-1% vs. 1+/-1%; p<0.001), normal to low plasma thrombopoietin levels, normal plasma glycocalicin levels, normal levels of platelet recovery, and near normal platelet life spans. Platelets from SS mice bound more fibrinogen and antibody to P-selectin following activation with a threshold concentration of a protease activated receptor (PAR)-4 peptide compared to WT mice. Enlarged platelets are associated with a predisposition to arterial thrombosis in humans and some humans with SCD have been reported to have large platelets. Thus, additional studies are needed to assess whether large platelets contribute either to pulmonary hypertension or the large vessel arterial occlusion that produces stroke in some children with sickle cell disease. PMID:18374611

  18. Musculoskeletal Manifestations of Sickle Cell Disease: A Review

    PubMed Central

    Vaishya, Raju; Edomwonyi, Edwin O; Vijay, Vipul

    2015-01-01

    Sickle cell disease (SCD) is an inherited disorder of abnormal haemoglobin commonly encountered in the West African sub-region. It has varied osteoarticular and non-osseous complications that mimic some surgical conditions. The most common orthopaedic complications include avascular necrosis, osteomyelitis, septic arthritis, etc. A cautious and painstaking evaluation is required in handling these patients. Acute care and anaesthetic precautions are vital in ensuring an uneventful postoperative period. PMID:26623213

  19. Ancestry of African Americans with Sickle Cell Disease

    PubMed Central

    Solovieff, Nadia; Hartley, Stephen W.; Baldwin, Clinton T.; Klings, Elizabeth S.; Gladwin, Mark T.; Taylor, James G.; Kato, Gregory J.; Farrer, Lindsay A.; Steinberg, Martin H.; Sebastiani, Paola

    2011-01-01

    The inheritance of genetic disease depends on ancestry that must be considered when interpreting genetic association studies and can provide insights when comparing traits in a population. We compared the genetic profiles of African Americans with sickle cell disease to those of Black Africans and Caucasian populations of European descent and found that they are less genetically admixed than other African Americans and have an ancestry similar to Yorubans, Mandenkas and Bantu. PMID:21546286

  20. Prevalence of Sickle Cell Trait in the Southern Suburb of Beirut, Lebanon

    PubMed Central

    El Ariss, Abdel Badih; Younes, Mohamad; Matar, Jad; Berjaoui, Zeina

    2016-01-01

    Objective The objective of this study was to assess the prevalence, gender differences, and time trends of Sickle Cell Trait in the Southern Suburb of Beirut, Lebanon, as well as to highlight the importance of screening for Sickle Cell Trait carriers in this population. Another objective was to describe a new screening technique for Sickle Cell Trait carriers. Methods This was a retrospective cohort study carried out at a private laboratory in the Southern Suburb of Beirut, Lebanon between 2002 and 2014. The sickling test was carried out for each patient using two methods: the classical “sodium metabisulfite sickling test”, and the new “sickling test method” used in the private lab. As a confirmatory test, hemoglobin electrophoresis was run on a random sample of 223 cases which were found to be positive using the two sickling tests. Results A total of 899 cases were found to be positive for the sickle cell trait out of 184,105 subjects screened during the 12-year period, prevalence = 0.49% (95% CI: 0.46 – 0.52). Among the total sample, females were found to have higher prevalence, where no time trend over the studied period was noted. The haemoglobin electrophoresis method confirmed the results of this new sickling test technique among the random sample of the 223 cases. Conclusion We found that the prevalence of sickle cell trait is lower as compared to other Arab countries, higher in females, with no significant time trend. The sickle cell test was found to be an accurate, simple and cheap test that could be easily added as a requirement for the pre-marital testing to screen for Sickle Cell Trait carriers. PMID:26977274

  1. Coagulation activation in sickle cell trait: an exploratory study

    PubMed Central

    Amin, Chirag; Adam, Soheir; Mooberry, Micah J.; Kutlar, Abdullah; Kutlar, Ferdane; Esserman, Denise; Brittain, Julia E.; Ataga, Kenneth I.; Chang, Jen-Yea; Wolberg, Alisa S.; Key, Nigel S.

    2016-01-01

    Summary Recent epidemiologic data suggest that sickle cell trait (HbAS; AS) is a risk factor for venous thromboembolism. We conducted an exploratory study of healthy subjects with AS under baseline conditions to determine whether a chronic basal hyperactivation of coagulation exists, and if so, what mechanism(s) contribute to this state. Eighteen healthy AS individuals were compared to 22 African-American controls with a normal haemoglobin profile (HbAA; AA) and 17 patients with sickle cell disease (HbSS; SS). Plasma thrombin-antithrombin complexes and D-dimer levels were elevated in AS relative to AA patients (P = 0.0385 and P = 0.017, respectively), and as expected, were much higher in SS versus AA (P < 0.0001 for both). Thrombin generation in platelet poor plasma was indistinguishable between AA and AS subjects, whereas a paradoxical decrease in endogenous thrombin potential was observed in SS (P ≤ 0.0001). Whole blood tissue factor was elevated in SS compared to AA (P = 0.005), but did not differ between AA and AS. Plasma microparticle tissue factor activity was non-significantly elevated in AS (P = 0.051), but was clearly elevated in SS patients (P = 0.004) when compared to AA controls. Further studies in larger cohorts of subjects with sickle cell trait are needed to confirm the results of this preliminary investigation. PMID:26511074

  2. A hypothesis of target cell formation in sickle cell disease.

    PubMed

    Wong, P

    2016-08-01

    A fraction of erythrocytes appear as target cells in stained blood smears in sickle cell disease, due to a inheritance of the hemoglobin variant Hb S, polymerizing upon deoxygenation. These cells appear in a three dimension as thin cups. A process of their formation in this disease is proposed based on a band 3-based mechanism of the erythrocyte shape control, able to explain the erythrocyte echinocytosis by glucose depletion. It indicates that their formation is due to a stomatocytogenic slow outward transport of the dibasic form of endogenous Pi with an H(+) by band 3, promoted by the decrease of the Donnan ratio, which decreases cell pH and volume, attributed by a decrease of cell KCl concentration by the higher efflux of K(+)Cl(-) cotransport and Ca(2+) activation of the Gardos channel. Its implications are briefly discussed with respect to target cells per se, target cell formation in other hemoglobinopathies, acquired and inherited disorders of the lipid metabolism and dehydrated hereditary stomatocytosis as well as a stomatocyte presence in a double heterozygote of Hb S and Hb C and of an involvement of the process of target cell formation in acanthocytosis in acquired and inherited disorders. PMID:27372866

  3. Erythrocyte/endothelial interactions in the pathogenesis of sickle-cell disease: a "real logical" assessment.

    PubMed

    Hebbel, R P; Eaton, J W; Steinberg, M H; White, J G

    1982-01-01

    Unconvinced that the pathophysiology of sickle-cell disease is fully explained by traditional rheologic considerations, we have searched for additional factors which might be implicated in the development of acute vasocclusive crises in this disease. Sickle RBC adhere abnormally to cultured human vascular endothelial cells, an abnormality requiring neither deoxygenation nor frank morphologic distortion of the RBC. This adherence appears to be caused by an aberrancy of RBC surface charge topography on sickle RBC. Propensity for RBC adherence individual. Among patients with sickle cell anemia, frequency of acute vasocclusive crises correlates significantly with RBC adherence to endothelium. Patients with the clinically less severe doubly heterozygous sickling disorders have a lesser RBC adherence to endothelium than do patients with sickle-cell anemia. RBC/endothelial interactions are modified by factors in the RBC's environment such as fibrinogen, providing a possible mechanism by which concurrent illness might predispose towards the development of vasocclusion. We hypothesize that sickle RBC adherence to endothelium is the factor which initiates acute vasocclusion in sickle-cell disease, either by primarily occluding small vessels or by slowing microvascular blood flow so that secondary, reversible RBC sickling can occur. PMID:7115974

  4. [Sickle cell anemia causes varied symptoms and high morbidity. Serious prognosis in the most common genetic disease in the world].

    PubMed

    Kjellander, Christian; Sennström, Maria K B; Stiller, Viveka; Ågren, Anna

    2015-01-01

    Sickle cell anemia is a life-threatening disease, and the most common genetic disease in the world. The prevalence of sickle cell anemia in Sweden is unknown. Sickle cell anemia is an important disease, because of its variable complications, in many medical and surgical specialties. The overview highlights common medical problems encountered in sickle cell anemia presented through a case report of a pregnant woman. PMID:25734427

  5. Sickle cell trait diagnosis: clinical and social implications.

    PubMed

    Naik, Rakhi P; Haywood, Carlton

    2015-01-01

    The sickle hemoglobin (HbS) point mutation has independently undergone evolutionary selection at least five times in the world because of its overwhelming malarial protective effects in the heterozygous state. In 1949, homozygous Hb S or sickle cell disease (SCD) became the first inherited condition identified at the molecular level; however, since then, both SCD and heterozygous Hb S, sickle cell trait (SCT), have endured a long and complicated history. Hasty adoption of early mass screening programs for SCD, recent implementation of targeted screening mandates for SCT in athletics, and concerns about stigmatization have evoked considerable controversy regarding research and policy decisions for SCT. Although SCT is a largely protective condition in the context of malaria, clinical sequelae, such as exercise-related injury, renal complications, and venous thromboembolism can occur in affected carriers. The historical background of SCD and SCT has provided lessons about how research should be conducted in the modern era to minimize stigmatization, optimize study conclusions, and inform genetic counseling and policy decisions for SCT. PMID:26637716

  6. Sickle cell trait diagnosis: clinical and social implications

    PubMed Central

    Naik, Rakhi P.; Haywood, Carlton

    2015-01-01

    The sickle hemoglobin (HbS) point mutation has independently undergone evolutionary selection at least five times in the world because of its overwhelming malarial protective effects in the heterozygous state. In 1949, homozygous Hb S or sickle cell disease (SCD) became the first inherited condition identified at the molecular level; however, since then, both SCD and heterozygous Hb S, sickle cell trait (SCT), have endured a long and complicated history. Hasty adoption of early mass screening programs for SCD, recent implementation of targeted screening mandates for SCT in athletics, and concerns about stigmatization have evoked considerable controversy regarding research and policy decisions for SCT. Although SCT is a largely protective condition in the context of malaria, clinical sequelae, such as exercise-related injury, renal complications, and venous thromboembolism can occur in affected carriers. The historical background of SCD and SCT has provided lessons about how research should be conducted in the modern era to minimize stigmatization, optimize study conclusions, and inform genetic counseling and policy decisions for SCT. PMID:26637716

  7. Sickle cell anaemia: progress in pathogenesis and treatment.

    PubMed

    Ballas, Samir K

    2002-01-01

    The phenotypic expression of sickle cell anaemia varies greatly among patients and longitudinally in the same patient. It influences all aspects of the life of affected individuals including social interactions, intimate relationships, family relations, peer interactions, education, employment, spirituality and religiosity. The clinical manifestations of sickle cell anaemia are protean and fall into three major categories: anaemia and its sequelae;pain and related issues; andorgan failure including infection. Recent studies on the pathogenesis of sickle cell anaemia have centred on the sequence of events that occur between polymerisation of deoxy haemoglobin (Hb) S and vaso-occlusion. Cellular dehydration, inflammatory response and reperfusion injury seem to be important pathophysiological mechanisms. Management of sickle cell anaemia continues to be primarily palliative in nature, including supportive, symptomatic and preventative approaches to therapy. Empowerment and education are the major aspects of supportive care. Symptomatic management includes pain management, blood transfusion and treatment of organ failure. Pain managment should follow certain priniciples that include assessment, individualisation of therapy and proper utilisation of opioid and nonopioid analgesics in order to acheive adequate pain relief. Blood selected for transfusion should be leuko-reduced and phenotypically matched for the C, E and Kell antigens. Exchange transfusion is indicated in patients who are transfused chronically in order to prevent or delay the onset of iron-overload. Acute chest syndrome is the most common form of organ failure and its management should be agressive, including adequate ventilation, multiple antibacterials and simple or exchange blood transfusion depending on its severity. Preventitive therapy includes prophylactic penicillin in infants and children, blood transfusion (preferably exchange transfusion) in patients with stroke, and hydroxyurea in patients

  8. Mechanism of vaso-occlusion in sickle cell anemia

    NASA Astrophysics Data System (ADS)

    Lei, Huan; Karniadakis, George

    2012-11-01

    Vaso-occlusion crisis is one of the key hallmark of sickle cell anemia. While early studies suggested that the crisis is caused by blockage of a single elongated cell, recent experimental investigations indicate that vaso-occlusion is a complex process triggered by adhesive interactions among different cell groups in multiple stages. Based on dissipative particle dynamics, a multi-scale model for the sickle red blood cells (SS-RBCs), accounting for diversity in both shapes and cell rigidities, is developed to investigate the mechanism of vaso-occlusion crisis. Using this model, the adhesive dynamics of single SS-RBC was investigated in arterioles. Simulation results indicate that the different cell groups (deformable SS2 RBCs, rigid SS4 RBCs, leukocytes, etc.) exhibit heterogeneous adhesive behavior due to the different cell morphologies and membrane rigidities. We further simulate the tube flow of SS-RBC suspensions with different cell fractions. The more adhesive SS2 cells interact with the vascular endothelium and further trap rigid SS4 cells, resulting in vaso-occlusion in vessels less than 15 μm . Under inflammation, adherent leukocytes may also trap SS4 cells, resulting in vaso-occlusion in even larger vessels. This work was supported by the NSF grant CBET-0852948 and the NIH grant R01HL094270.

  9. Proceedings of a Sickle Cell Disease Ontology workshop - Towards the first comprehensive ontology for Sickle Cell Disease.

    PubMed

    Mulder, Nicola; Nembaware, Victoria; Adekile, Adekunle; Anie, Kofi A; Inusa, Baba; Brown, Biobele; Campbell, Andrew; Chinenere, Furahini; Chunda-Liyoka, Catherine; Derebail, Vimal K; Geard, Amy; Ghedira, Kais; Hamilton, Carol M; Hanchard, Neil A; Haendel, Melissa; Huggins, Wayne; Ibrahim, Muntaser; Jupp, Simon; Kamga, Karen Kengne; Knight-Madden, Jennifer; Lopez-Sall, Philomène; Mbiyavanga, Mamana; Munube, Deogratias; Nirenberg, Damian; Nnodu, Obiageli; Ofori-Acquah, Solomon Fiifi; Ohene-Frempong, Kwaku; Opap, Kenneth Babu; Panji, Sumir; Park, Miriam; Pule, Gift; Royal, Charmaine; Sangeda, Raphael; Tayo, Bamidele; Treadwell, Marsha; Tshilolo, Léon; Wonkam, Ambroise

    2016-06-01

    Sickle cell disease (SCD) is a debilitating single gene disorder caused by a single point mutation that results in physical deformation (i.e. sickling) of erythrocytes at reduced oxygen tensions. Up to 75% of SCD in newborns world-wide occurs in sub-Saharan Africa, where neonatal and childhood mortality from sickle cell related complications is high. While SCD research across the globe is tackling the disease on multiple fronts, advances have yet to significantly impact on the health and quality of life of SCD patients, due to lack of coordination of these disparate efforts. Ensuring data across studies is directly comparable through standardization is a necessary step towards realizing this goal. Such a standardization requires the development and implementation of a disease-specific ontology for SCD that is applicable globally. Ontology development is best achieved by bringing together experts in the domain to contribute their knowledge. The SCD community and H3ABioNet members joined forces at a recent SCD Ontology workshop to develop an ontology covering aspects of SCD under the classes: phenotype, diagnostics, therapeutics, quality of life, disease modifiers and disease stage. The aim of the workshop was for participants to contribute their expertise to development of the structure and contents of the SCD ontology. Here we describe the proceedings of the Sickle Cell Disease Ontology Workshop held in Cape Town South Africa in February 2016 and its outcomes. The objective of the workshop was to bring together experts in SCD from around the world to contribute their expertise to the development of various aspects of the SCD ontology. PMID:27354937

  10. Detecting the Emergence of Chronic Pain in Sickle Cell Disease

    PubMed Central

    Hollins, Mark; Stonerock, Gregory L.; Kisaalita, Nkaku R.; Jones, Susan; Orringer, Eugene; Gil, Karen M.

    2012-01-01

    Context Sickle cell disease (SCD) is an inherited hematological disease marked by intense pain. Early in life the pain is episodic, but it becomes increasingly chronic in many cases. Little is known about this emergence of a chronic pain state. Objectives The goal of this study was to determine whether adult SCD patients whose pain is still largely episodic show early signs of the disturbed pain processing (hyperalgesia, increased temporal summation) and cognition (hypervigilance and catastrophizing) that are characteristic of a chronic pain state. Methods SCD patients (n=22) and healthy controls (n=52) received noxious pressure stimulation for up to three minutes, and periodically reported pain intensity and unpleasantness on 0–10 scales, allowing the rate of pain increase (temporal summation) to be determined. Pain intensity discrimination also was measured, and attitudes toward pain were assessed. Results There were no overall differences in pain ratings or temporal summation between patient and control groups. However, patients’ experimental pain ratings tended to increase with age, and those reporting a history of very painful episodes showed particularly rapid temporal summation of pain unpleasantness. Patients were significantly impaired at discriminating intensities of noxious stimulation. Patients were more hypervigilant than controls, but catastrophizing was elevated only during pain episodes. Conclusion Most SCD patients whose pain remits entirely between episodes are not in a chronic pain state, but some—those who are older and have a history of highly painful episodes—appear to be transitioning into it. These early signs of disturbed processing may aid clinicians seeking to forestall disease progression. PMID:22579409

  11. Impaired pubertal development and testicular hormone function in males with sickle cell anemia.

    PubMed

    Martins, Paulo Roberto Juliano; Kerbauy, José; Moraes-Souza, Helio; Pereira, Gilberto de Araújo; Figueiredo, Maria Stella; Verreschi, Ieda Therezinha

    2015-01-01

    Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility have been demonstrated in sickle cell disease (SCD). This study aimed to evaluate the clinical and laboratory views of the Leydig cells function after stimulation with hCG in adults with sickle cell disease. We studied 15 patients with SCD (18 to 40 years; median=27 years old), fourteen homozygous S, and one with SC disease. The control group, composed by adult males, was divided into two groups: I - 10 relatives (18-39 years, median=26 years) with the same socioeconomic level of the patients, and II - 9 normal individuals (23-28, median=31 years) randomly chosen. Clinically it was observed a slight degree of malnutrition, important puberty delay, rarefaction of chest, underarm and pubic hair, and important reduction of the testis and penis size, featuring a mild hypogonadism in patients with SCD. The hormonal level assessment of testosterone at baseline and at 24, 48 and 72 h after hCG stimulation showed no significant differences between the groups studied. We can presume that adult men with SCD showed clinical hypoandrogenism with normal testicular hormonal function, a fact inconsistent with the hypothesis of primary hypogonadism. PMID:25190051

  12. Hepatic bilirubin UDP-glucuronyltransferase in patients with sickle cell anemia.

    PubMed

    Maddrey, W C; Cukier, J O; Maglalang, A C; Boitnott, J K; Odell, G B

    1978-02-01

    In sickle cell anemia the shortened survival of red blood cells presents the liver with an augmented load of bilirubin for hepatic clearance. To determine the effects of this excessive bilirubin load on the microsomal conjugating enzyme, hepatic bilirubin UDP-glucuronyltransferase, levels of this enzyme were measured in liver biopsies from patients with sickle cell anemia and several comparison groups. UDP-glucuronyltransferase activity in 14 patients with sickle cell anemia was 2-fold greater (P less than 0.005) than in 14 nonjaundiced comparison patients without liver disease. The elevated UDP-glucuronyltransferase activity in sickle cell anemia was similar to that found in 10 patients who chronically ingested drugs (barbiturates or estrogens) known to increase UDP-glucuronyltransferase activity. These observations suggest enhanced conjugation of bilirubin in patients with sickle cell anemia may result from substrate (bilirubin) induction of UDP-glycuronyltransferase. PMID:413760

  13. Understanding the mechanisms of sickle cell disease by simulations with a discrete particle model

    NASA Astrophysics Data System (ADS)

    Hui, Katrina; Lin, Guang; Pan, Wenxiao

    2013-01-01

    Sickle cell disease (SCD) is an inherited blood disorder characterized by rigid, sickle-shaped red blood cells (RBCs). Because of their rigidity and shape, sickle cells can get stuck in smaller blood vessels, causing blockages and depriving oxygen to tissues. This study develops and applies mathematical models to better understand the mechanism of SCD. Two-dimensional models of RBCs and blood vessels have been constructed by representing them as discrete particles interacting with different forces. The nonlinear, elastic property of healthy RBCs could be adequately reproduced using a cosine angle bending force and a worm-like chain spring force. With the ability to deform, RBCs can squeeze through narrow blood vessels. In modeling sickle cells as rigid bodies and applying repelling and friction forces from the blood vessel, this study shows that geometrical factors (dimensions of the sickle cell and blood vessels) as well as rigidity and adhesiveness of the sickle cell all play an important role in determining how, and if, sickle cells become trapped within narrow blood capillaries. With lack of data to validate the model, this study primarily provides a sensitivity analysis of factors influencing sickle cell occlusion and identified critical data to support future modeling.

  14. Focal nodular hyperplasia of the liver: a link with sickle cell disease?

    PubMed Central

    Heaton, N D; Pain, J; Cowan, N C; Salisbury, J; Howard, E R

    1991-01-01

    Focal nodular hyperplasia is a benign liver tumour that is rare in children. We report the second case of a child with sickle cell disease presenting with symptomatic focal nodular hyperplasia. The possible pathogenesis of focal nodular hyperplasia and the association with sickle cell disease are discussed. Images Figure 1 Figure 2 Figure 3 PMID:1929517

  15. Children with Sickle-Cell Anemia: Parental Relations, Parent-Child Relations, and Child Behavior.

    ERIC Educational Resources Information Center

    Evans, Robert C.; And Others

    1988-01-01

    Investigated the influence of a child with sickle-cell anemia on parental affiliation, parent-child relationships, and parents' perception of their child's behavior. In the sickle-cell group, parents' interpersonal relationship suffered; parent-child relationship and child behavior correlated significantly; and single-parent families estimated…

  16. Current Sickle Cell Screening Program for Newborns in New York City, 1979-1980.

    ERIC Educational Resources Information Center

    Grover, Ranjeet; And Others

    1983-01-01

    Screening tests indicated that 141 out of 106,565 infants examined in New York City during 1979-80, had various forms of sickle cell anemia. Follow-up of 131 patients confirmed the original diagnoses, suggesting that the New York City Follow-up Program for Sickle Cell Screening of newborns was successful. (Author/MJL)

  17. A Group Counseling Approach for Persons Who Work With Sickle Cell Anemia Clients.

    ERIC Educational Resources Information Center

    Calvin, Richmond

    Although many workshops on sickle cell anemia have been held, it is still difficult to implement a comprehensive training program for sickle cell anemia clients in many communities. Research data on the topic are somewhat nebulous and insufficient political and social pressure have been exerted to change attitudes and take action towards the…

  18. Splenic syndrome in patients at high altitude with unrecognized sickle cell trait: splenectomy is often unnecessary

    PubMed Central

    Sheikha, Anwar

    2005-01-01

    Background The health risks associated with sickle cell trait are minimal in this sizable sector of the world's population, and many of these patients have no information about their sickle cell status. Splenic syndrome at high altitude is well known to be associated with sickle cell trait, and unless this complication is kept in mind these patients may be subjected to unnecessary surgery when they present with altitude-induced acute abdomen. Methods Four patients were admitted to the surgical ward with a similar complaint of acute severe left upper abdominal pain after arrival to the mountainous resort city of Abha, Saudi Arabia. All were subjected to splenectomy because of lack of suspicion regarding sickle cell status. Results Histologic examination of the spleen showed all patients had sickle cells in the red pulp. On further assessment all were found to have sickle cell trait with splenic infarction. In a similar study of 6 patients with known sickle cell disease who had comparable problems when they travelled to the Colorado mountains, all made an uncomplicated recovery with conservative management. Conclusions In ethnically vulnerable patients with splenic syndrome, sickle cell trait should be ruled out before considering splenectomy. These patients could respond well to supportive management, and splenectomy would be avoided. PMID:16248136

  19. "Untangling Sickle-Cell Anemia and the Teaching of Heterozygote Protection"

    ERIC Educational Resources Information Center

    Howe, Eric Michael

    2007-01-01

    Introductory biology textbooks often use the example of sickle-cell anemia to illustrate the concept of heterozygote protection. Ordinarily scientists expect the frequency of a gene associated with a debilitating illness would be low owing to its continual elimination by natural selection. The gene that causes sickle-cell anemia, however, has a…

  20. A Review of the Literature: Use of the Health Belief Model in Sickle Cell Research

    ERIC Educational Resources Information Center

    Mayo-Gamble, Tilicia L.

    2014-01-01

    Individuals with sickle cell disease experience a life-time of morbidity as well as a decreased lifespan. Since African Americans are disproportionately affected by the disease, sickle cell contributes to growing health disparities within this population. Thus, addressing issues related to the disease presents an increased need for health…

  1. An overview of the effects of sickle cell disease in adolescents.

    PubMed

    Musumadi, Luhanga; Westerdale, Neil; Appleby, Helen

    Specific complications of sickle cell disease (SCD) may emerge during adolescence, and education of patients and families is vital during transition from paediatric to adult health care. Adolescents with SCD have to adjust to the constraints of living with a lifelong chronic condition, and compliance with self-care and medical treatments can be problematic. This article explores potential opportunities for intervention, and examines how the role of the adolescent clinical nurse specialist is pivotal in supporting patients and families during this transition. PMID:22482187

  2. Proposed low-cost premarital screening program for prevention of sickle cell and thalassemia in Yemen

    PubMed Central

    Al-Nood, Hafiz; Al-Hadi, Abdulrahman

    2013-01-01

    In Yemen, the prevalence of sickle cell trait and β-thalassemia trait are high. The aim of this premarital program is to identify sickle cell and thalassemia carrier couples in Yemen before completing marriages proposal, in order to prevent affected birth. This can be achieved by applying a low-cost premarital screening program using simple blood tests compatible with the limited health resources of the country. If microcytosis or positive sickle cell is found in both or one partner has microcytosis and the other has positive sickle cell, so their children at high risk of having sickle cell or/and thalassemia diseases. Carrier couples will be referred to genetic counseling. The outcomes of this preventive program are predicted to decrease the incidence of affected birth and reduce the health burden of these disorders. The success of this program also requires governmental, educational and religious supports. PMID:25003062

  3. Dynamic quantitative microscopy and nanoscopy of red blood cells in sickle cell disease

    NASA Astrophysics Data System (ADS)

    Shaked, Natan T.; Satterwhite, Lisa L.; Telen, Marilyn J.; Truskey, George A.; Wax, Adam

    2012-03-01

    We have applied wide-field digital interferometric techniques to quantitatively image sickle red blood cells (RBCs) [1] in a noncontact label-free manner, and measure the nanometer-scale fluctuations in their thickness as an indication of their stiffness. The technique can simultaneously measure the fluctuations for multiple spatial points on the RBC and thus yields a map describing the stiffness of each RBC in the field of view. Using this map, the local rigidity regions of the RBC are evaluated quantitatively. Since wide-field digital interferometry is a quantitative holographic imaging technique rather than one-point measurement, it can be used to simultaneously evaluate cell transverse morphology plus thickness in addition to its stiffness profile. Using this technique, we examine the morphology and dynamics of RBCs from individuals who suffer from sickle cell disease, and find that the sickle RBCs are significantly stiffer than healthy RBCs. Furthermore, we show that the technique is sensitive enough to distinguish various classes of sickle RBCs, including sickle RBCs with visibly-normal morphology, compared to the stiffer crescent-shaped sickle RBCs.

  4. Orbital wall infarction mimicking periorbital cellulitis in a patient with sickle cell disease.

    PubMed

    Ozkavukcu, Esra; Fitoz, Suat; Yagmurlu, Banu; Ciftci, Ergin; Erden, Ilhan; Ertem, Mehmet

    2007-04-01

    Orbital wall infarction and subperiosteal haematomas are unusual manifestations of sickling disorders. Here we report an 11-year-old girl with sickle cell anaemia having multiple skull infarctions including the orbital bony structures associated with subperiosteal haematomas. The diagnosis was made by MRI, which showed bone marrow changes and associated haemorrhagic collections. The patient was successfully managed without surgical intervention. PMID:17297619

  5. Pulse oximetry in a cohort study of sickle cell disease.

    PubMed

    Homi, J; Levee, L; Higgs, D; Thomas, P; Serjeant, G

    1997-03-01

    Oxygen saturation was determined by pulse oximetry in a representative sample of Jamaican patients with steady-state sickle cell disease in a cohort study from birth. There were 220 with homozygous sickle cell (SS) disease and 142 with sickle cell-haemoglobin C (SC) disease aged 9-18 years, and 122 with a normal haemoglobin (AA) genotype aged 15-18 years. Pulse oximetry (SpO2) values were lower in SS disease (mean [95% confidence interval], 92.5 [92.0-93.0]) than in SC disease (96.7[96.5-96.9]) or AA controls (97.1 [96.8-97.3]). Inhalation of 100% oxygen in SS patients with O2 saturations below 90% consistently increased saturation to 99-100%. In SS disease, SpO2 correlated positively with haemoglobin and fetal haemoglobin and negatively with reticulocyte counts but not with MCHC, MCV or bilirubin level. Mean SpO2 in SS subjects with a normal alpha globin gene complement (mean [SD], 91.7 [3.9]%) was lower than in heterozygotes (93.4 [4.0]%) or homozygotes (96.1 [3.0]%) for alpha+ thalassaemia, the effects of alpha-thalassaemia not being explained by differences in haemoglobin or MCHC. In SS disease, SpO2 levels were not associated with age (within this age range), sex, number of sick clinic visits or number of hospital admissions. Higher SpO2 levels were associated with greater height and weight, more frequent painful crises and less frequent acute chest syndrome, but these associations were not significant after adjustment for haemoglobin level. Desaturation is common in steady-state SS disease and knowledge of the individual's steady-state value may be important in the interpreting low values during acute complications. PMID:9146942

  6. The pain experience of patients with sickle cell anemia.

    PubMed

    Jacob, E

    2001-09-01

    Sickle cell anemia is a genetic disorder that affects 1 in 600 black infants in the United States. The painful crisis is one of its most characteristic manifestations and consists of pain in the extremities, back, abdomen, or chest. It may occur in 4 phases and may be precipitated by a variety of factors. The frequency, location, duration, severity, and character of pain differ both within and among patients. The pain may be localized, involve several areas, be diffuse, or be migratory. The intensity of pain varies from mild to excruciating and is perceived to be more intense by those who have experienced other forms of pain such as postoperative pain. Patients with sickle cell anemia who experience frequent painful crises exhibit problems with self-concept and low self-esteem, anxiety, depression, dissatisfaction with body image, poor school performance, social isolation, decreased participation in normal activities of daily living, and poor peer and family relationships. The periodic and unpredictable episodes can be incapacitating and may affect the way children see and feel about themselves, the way they relate to other people, the goals they set for themselves, and the way they approach a range of activities and situations. Research is very limited, and most of the available literature is based on personal observations, opinions, and anecdotal reports. The purpose of this report is to describe the phases of a painful episode as well as to examine the predisposing factors to, defining characteristics of, and patient outcomes associated with a painful crisis from sickle cell anemia. PMID:11710089

  7. Deoxygenation Reduces Sickle Cell Blood Flow at Arterial Oxygen Tension.

    PubMed

    Lu, Xinran; Wood, David K; Higgins, John M

    2016-06-21

    The majority of morbidity and mortality in sickle cell disease is caused by vaso-occlusion: circulatory obstruction leading to tissue ischemia and infarction. The consequences of vaso-occlusion are seen clinically throughout the vascular tree, from the relatively high-oxygen and high-velocity cerebral arteries to the relatively low-oxygen and low-velocity postcapillary venules. Prevailing models of vaso-occlusion propose mechanisms that are relevant only to regions of low oxygen and low velocity, leaving a wide gap in our understanding of the most important pathologic process in sickle cell disease. Progress toward understanding vaso-occlusion is further challenged by the complexity of the multiple processes thought to be involved, including, but not limited to 1) deoxygenation-dependent hemoglobin polymerization leading to impaired rheology, 2) endothelial and leukocyte activation, and 3) altered cellular adhesion. Here, we chose to focus exclusively on deoxygenation-dependent rheologic processes in an effort to quantify their contribution independent of the other processes that are likely involved in vivo. We take advantage of an experimental system that, to our knowledge, uniquely enables the study of pressure-driven blood flow in physiologic-sized tubes at physiologic hematocrit under controlled oxygenation conditions, while excluding the effects of endothelium, leukocyte activation, adhesion, inflammation, and coagulation. We find that deoxygenation-dependent rheologic processes are sufficient to increase apparent viscosity significantly, slowing blood flow velocity at arterial oxygen tension even without additional contributions from inflammation, adhesion, and endothelial and leukocyte activation. We quantify the changes in apparent viscosity and define a set of functional regimes of sickle cell blood flow personalized for each patient that may be important in further dissecting mechanisms of in vivo vaso-occlusion as well as in assessing risk of patient

  8. Oxidative stress in β-thalassaemia and sickle cell disease.

    PubMed

    Voskou, S; Aslan, M; Fanis, P; Phylactides, M; Kleanthous, M

    2015-12-01

    Sickle cell disease and β-thalassaemia are inherited haemoglobinopathies resulting in structural and quantitative changes in the β-globin chain. These changes lead to instability of the generated haemoglobin or to globin chain imbalance, which in turn impact the oxidative environment both intracellularly and extracellularly. The ensuing oxidative stress and the inability of the body to adequately overcome it are, to a large extent, responsible for the pathophysiology of these diseases. This article provides an overview of the main players and control mechanisms involved in the establishment of oxidative stress in these haemoglobinopathies. PMID:26285072

  9. Oxidative stress in β-thalassaemia and sickle cell disease

    PubMed Central

    Voskou, S.; Aslan, M.; Fanis, P.; Phylactides, M.; Kleanthous, M.

    2015-01-01

    Sickle cell disease and β-thalassaemia are inherited haemoglobinopathies resulting in structural and quantitative changes in the β-globin chain. These changes lead to instability of the generated haemoglobin or to globin chain imbalance, which in turn impact the oxidative environment both intracellularly and extracellularly. The ensuing oxidative stress and the inability of the body to adequately overcome it are, to a large extent, responsible for the pathophysiology of these diseases. This article provides an overview of the main players and control mechanisms involved in the establishment of oxidative stress in these haemoglobinopathies. PMID:26285072

  10. Circulating immune complexes in sickle cell-beta zero thalassemia.

    PubMed

    Donadi, E A; Carvalho, I F; Falcão, R P

    1989-01-01

    A serum fraction from patients with sickle cell-beta zero thalassemia prepared by treatment with polyethyleneglycol showed increased amounts of C1q-precipitable immune complexes, i.e., 216 micrograms/dl (range, 141-266 micrograms/dl) vs 181 micrograms/dl (range, 152-228 micrograms/dl) for controls (P less than 0.05), as well as increased amounts of protein. Levels of IgG, IgA, IgM, C3, C4 and factor B in the same fraction were within the normal range. PMID:2638196

  11. Polymorphisms associated with sickle cell disease in Southern Iran.

    PubMed

    Haghpanah, S; Nasirabadi, S; Kianmehr, M; Afrasiabi, A; Karimi, M

    2012-07-01

    Sickle cell disease (SCD) is an inherited autosomal recessive disorder. We aimed to describe the spectrum of haplotyes of BS-gene and to investigate a relationship with disease phenotype in patients with SCD in Southern Iran. We didn't find any significant association between BS-globin gene haplotypes and clinical severity of the disease in an Iranian population. The exact mechanism by which the BS-globin gene polymorphism affects clinical presentation is not obvious; however, further detailed studies at the molecular level, with a larger sample size are required to show the mechanisms that influence the clinical presentation of SCD in Iranian population. PMID:22988776

  12. Case Report: Psychosis in an adolescent with sickle cell disease

    PubMed Central

    Bakare, Muideen Owolabi

    2007-01-01

    Anxiety and depression are well documented complications of adjustment in sickle cell disease (SCD), but psychosis as a direct complication of or adjustment in SCD is uncommon. This article reports a case of psychosis in an adolescent with SCD. It advocates for further study on the relationship between psychosis and brain tissue silent-infarcts in these patients and the urge for alertness on the part of health care professionals regarding a holistic approach to the management of these children and adolescents with SCD. PMID:17683635

  13. Sickle Cell Disease and Your Baby

    MedlinePlus

    ... cells carry oxygen to the rest of your body. In a healthy person, red blood cells are round and flexible. They flow easily in the blood. A person ... cells carry oxygen to the rest of your body. In a healthy person, red blood cells are round and flexible. They flow easily in the blood. A person ...

  14. Decreased exhaled nitric oxide in sickle cell disease: relationship with chronic lung involvement.

    PubMed

    Girgis, Reda E; Qureshi, Mohammed A; Abrams, Judith; Swerdlow, Paul

    2003-03-01

    A deficiency in airway nitric oxide (NO) could contribute to pulmonary vaso-occlusion in sickle cell disease (SCD). We measured the fractional expired concentration of NO (FE(NO)) by chemiluminescence during a slow vital capacity maneuver against a positive pressure of 16 cm H(2)O at an expiratory flow rate of 50 mL/sec in 44 stable ambulatory adults with SCD and 30 healthy controls. A history of acute chest syndrome was present in 29 patients, and 22 complained of dyspnea. Mean +/- SD FE(NO) was significantly reduced in the SCD group compared with controls (14.8 +/- 8.4 vs. 24.9 +/- 13.5 ppb, P < 0.001). SCD patients with dyspnea had lower FE(NO) than those without dyspnea (10.1 +/- 5.7 vs. 19.6 +/- 8 ppb, P < 0.001) and those with a history of ACS had lower values than those no episodes of ACS (13.0 +/- 8.3 vs. 18.4 +/- 7.6 ppb, P < 0.05). There was a weak correlation between FE(NO) and percent-predicted DLCO (r = 0.4, P = 0.02) among the SCD patients. We conclude that exhaled NO is reduced in adults with SCD, and this may play a role in the pathogenesis of acute chest syndrome and chronic sickle cell lung disease. PMID:12605389

  15. How I treat and manage strokes in sickle cell disease.

    PubMed

    Kassim, Adetola A; Galadanci, Najibah A; Pruthi, Sumit; DeBaun, Michael R

    2015-05-28

    Neurologic complications are a major cause of morbidity and mortality in sickle cell disease (SCD). In children with sickle cell anemia, routine use of transcranial Doppler screening, coupled with regular blood transfusion therapy, has decreased the prevalence of overt stroke from ∼11% to 1%. Limited evidence is available to guide acute and chronic management of individuals with SCD and strokes. Current management strategies are based primarily on single arm clinical trials and observational studies, coupled with principles of neurology and hematology. Initial management of a focal neurologic deficit includes evaluation by a multidisciplinary team (a hematologist, neurologist, neuroradiologist, and transfusion medicine specialist); prompt neuro-imaging and an initial blood transfusion (simple followed immediately by an exchange transfusion or only exchange transfusion) is recommended if the hemoglobin is >4 gm/dL and <10 gm/dL. Standard therapy for secondary prevention of strokes and silent cerebral infarcts includes regular blood transfusion therapy and in selected cases, hematopoietic stem cell transplantation. A critical component of the medical care following an infarct is cognitive and physical rehabilitation. We will discuss our strategy of acute and long-term management of strokes in SCD. PMID:25824688

  16. BOLD delay times using group delay in sickle cell disease

    NASA Astrophysics Data System (ADS)

    Coloigner, Julie; Vu, Chau; Bush, Adam; Borzage, Matt; Rajagopalan, Vidya; Lepore, Natasha; Wood, John

    2016-03-01

    Sickle cell disease (SCD) is an inherited blood disorder that effects red blood cells, which can lead to vasoocclusion, ischemia and infarct. This disease often results in neurological damage and strokes, leading to morbidity and mortality. Functional Magnetic Resonance Imaging (fMRI) is a non-invasive technique for measuring and mapping the brain activity. Blood Oxygenation Level-Dependent (BOLD) signals contain also information about the neurovascular coupling, vascular reactivity, oxygenation and blood propagation. Temporal relationship between BOLD fluctuations in different parts of the brain provides also a mean to investigate the blood delay information. We used the induced desaturation as a label to profile transit times through different brain areas, reflecting oxygen utilization of tissue. In this study, we aimed to compare blood flow propagation delay times between these patients and healthy subjects in areas vascularized by anterior, middle and posterior cerebral arteries. In a group comparison analysis with control subjects, BOLD changes in these areas were found to be almost simultaneous and shorter in the SCD patients, because of their increased brain blood flow. Secondly, the analysis of a patient with a stenosis on the anterior cerebral artery indicated that signal of the area vascularized by this artery lagged the MCA signal. These findings suggest that sickle cell disease causes blood propagation modifications, and that these changes could be used as a biomarker of vascular damage.

  17. How I treat and manage strokes in sickle cell disease

    PubMed Central

    Kassim, Adetola A.; Galadanci, Najibah A.; Pruthi, Sumit

    2015-01-01

    Neurologic complications are a major cause of morbidity and mortality in sickle cell disease (SCD). In children with sickle cell anemia, routine use of transcranial Doppler screening, coupled with regular blood transfusion therapy, has decreased the prevalence of overt stroke from ∼11% to 1%. Limited evidence is available to guide acute and chronic management of individuals with SCD and strokes. Current management strategies are based primarily on single arm clinical trials and observational studies, coupled with principles of neurology and hematology. Initial management of a focal neurologic deficit includes evaluation by a multidisciplinary team (a hematologist, neurologist, neuroradiologist, and transfusion medicine specialist); prompt neuro-imaging and an initial blood transfusion (simple followed immediately by an exchange transfusion or only exchange transfusion) is recommended if the hemoglobin is >4 gm/dL and <10 gm/dL. Standard therapy for secondary prevention of strokes and silent cerebral infarcts includes regular blood transfusion therapy and in selected cases, hematopoietic stem cell transplantation. A critical component of the medical care following an infarct is cognitive and physical rehabilitation. We will discuss our strategy of acute and long-term management of strokes in SCD. PMID:25824688

  18. Patient-specific blood rheology in sickle-cell anaemia.

    PubMed

    Li, Xuejin; Du, E; Lei, Huan; Tang, Yu-Hang; Dao, Ming; Suresh, Subra; Karniadakis, George Em

    2016-02-01

    Sickle-cell anaemia (SCA) is an inherited blood disorder exhibiting heterogeneous cell morphology and abnormal rheology, especially under hypoxic conditions. By using a multiscale red blood cell (RBC) model with parameters derived from patient-specific data, we present a mesoscopic computational study of the haemodynamic and rheological characteristics of blood from SCA patients with hydroxyurea (HU) treatment (on-HU) and those without HU treatment (off-HU). We determine the shear viscosity of blood in health as well as in different states of disease. Our results suggest that treatment with HU improves or worsens the rheological characteristics of blood in SCA depending on the degree of hypoxia. However, on-HU groups always have higher levels of haematocrit-to-viscosity ratio (HVR) than off-HU groups, indicating that HU can indeed improve the oxygen transport potential of blood. Our patient-specific computational simulations suggest that the HVR level, rather than the shear viscosity of sickle RBC suspensions, may be a more reliable indicator in assessing the response to HU treatment. PMID:26855752

  19. Prevention of sickle cell disease: observations on females with the sickle cell trait from the Manchester project, Jamaica.

    PubMed

    Mason, Karlene; Gibson, Felicea; Gardner, Ruth-Ann; Serjeant, Beryl; Serjeant, Graham R

    2016-04-01

    Screening for haemoglobin genotype was offered to senior school students in Manchester parish in south central Jamaica to test whether this knowledge would influence choice of partner and reduce births with sickle cell disease. Over six academic years, 15,539 students, aged mostly 15-19 years, were screened with voluntary compliance rising from 56 to 92 % over this period. All subjects were given permanent genotype cards and carriers of abnormal genes were offered counselling which explained the reproductive options but avoided recommendations. Prior to screening, all had been offered illustrated lectures on the genetics and clinical features of sickle cell disease. The current study, confined to females with the sickle cell trait, interviewed 763/845 (90.3 %) subjects seeking to assess retention of this knowledge and their response to subsequent boyfriends. Of those interviewed, 42 subjects were excluded (38 emigrated, one died, three received incorrect genotype cards) leaving 721 with complete information. Knowledge of genotype was retained in 95 %, the outcome of future offspring correctly recalled in 91 %, and haemoglobin genotype cards were still possessed by 89 %. A current 'boyfriend' was acknowledged in 403 (56 %) of whom the partner's genotype was known in 88 (74 determined by the project laboratory; 14 by other laboratories) and unknown in 315 (78 %). Offers of free blood tests to all these partners were accepted by only 14 (4 %). Seventeen (2.4 %) were married but the husbands genotype was known in only five (four AA, one AS) of these. Most subjects retain knowledge of their genotype and of its significance for having affected children but the reluctance of partners to be tested was a major obstacle. PMID:26630875

  20. Hemoglobin Aggregation in Single Red Blood Cells of Sickle Cell Anemia

    NASA Astrophysics Data System (ADS)

    Nishio, Izumi; Tanaka, Toyoichi; Sun, Shao-Tang; Imanishi, Yuri; Tsuyoshi Ohnishi, S.

    1983-06-01

    A laser light scattering technique was used to observe the extent of hemoglobin aggregation in solitary red blood cells of sickle cell anemia. Hemoglobin aggregation was confirmed in deoxygenated cells. The light scattering technique can also be applied to cytoplasmic studies of any biological cell.

  1. Vaso-occlusion in sickle cell disease: pathophysiology of the microvascular circulation.

    PubMed

    Kurantsin-Mills, J; Klug, P P; Lessin, L S

    1988-01-01

    Microvascular dysfunction accounts for the major morbidity and contributes to the mortality among patients with sickle cell hemoglobinopathies. We summarize the microcirculatory dynamics of red cells in sickle cell disease. An overview of the physiological attributes of the microcirculation is presented. The microcirculatory module is a unique organic entity within the tissue domain, which is concerned with the functional exchange of substances between the blood and the tissue environment. The impairment in deformability of sickle red cells and their heterogeneity cause them to show abnormal microvascular flow dynamics that, in turn, contribute to derangement of the microvascular bed. Studies of experimental models in animals have employed the microcirculation of the mesentery, the cremaster muscle, and the mesoappendix. These studies showed the rheological disequilibrium that results as sickle cells course through successive segments of the arterioles, capillaries, and venules. Direct in vivo microscopic observations in human subjects, with analysis and quantitation of the nailfold and bulbar conjunctival capillaries, have also provided useful information as to the adverse effects of sickling on the microcirculation. Sickle cell vaso-occlusion has three phases--initiation, propagation, and resolution. This framework provides a basis for testable hypotheses for verification in appropriately designed experiments. In this context, the determinants of the microvascular flow of erythrocytes in sickle cell disease are emphasized. PMID:3071170

  2. Perinatal outcome in sickle cell anemia: a prospective study from India.

    PubMed

    Daigavane, Mayoor M; Jena, Rabindra K; Kar, Tushar J

    2013-01-01

    Sickle cell anemia, the homozygous genotype of sickle cell disease is one of the most common heritable diseases in the world. The Arab-Asian haplotype present in India is one of the least severe of all haplotypes. Many sickle cell anemia patients are now leading a symptom-free productive life due to hydroxyurea (HU) and better supportive care. Although pregnancy in sickle cell anemia patients is considered a high-risk category, it perinatal outcome is least studied, particularly among carriers of the Arab-Asian haplotype. Thus, the present prospective, randomized study was performed to assess the perinatal outcome in sickle cell anemia. Neonatal outcome such as low birth weight, perinatal mortality rate, special care newborn unit (SCNU) admission, intrauterine growth retardation (IUGR) and pre term births were significantly higher in sickle cell anemia mothers. Maternal outcome such as severe anemia, preeclampsia, vasoocclusive crisis (VOC), pulmonary complications, jaundice and blood transfusion requirements were significantly higher in sickle cell anemia mothers, which were successfully managed. Cesarian section rate was not significantly different from normal controls. Successful pregnancies were achieved in 84.44% of cases. However, we strongly recommend that pregnancies in these patients should be managed in an institutional setup. PMID:23952263

  3. Lung Function in Sickle Cell Hemoglobinopathy Patients Compared With Healthy Subjects

    PubMed Central

    Young, Roscoe C.; Rachal, Raylinda E.; Reindorf, Carl A.; Armstrong, Earl M.; Polk, Octavius D.; Hackney, Robert L.; Scott, Roland B.

    1988-01-01

    Previous studies of lung function tests performed on patients with sickle cell disease have shown a restrictive ventilatory defect, usually a diffusion defect, and mild hypoxia at rest. The present study was undertaken to explain the pathophysiology of these changes and to extend these studies to include functional measurements not reported previously. Lung function studies were performed at rest and during treadmill walking on 66 patients with sickle cell anemia and on 16 healthy control subjects. Patients had restrictive ventilatory defects, decreased lung compliance, and uneven ventilation-perfusion ratios. These abnormalities caused an increased alveolar-arterial oxygen tension difference that caused hypoxemia. The diffusion defects were because of the sickle cell disease. Carboxyhemoglobin levels were increased in patients with sickle cell disease. This increase may be caused by a combination of factors, including increased cigarette smoking, hemolysis, and preferential survival of red blood cells that contain carbon monoxide and which do not sickle. During treadmill walking, the patients with sickle cell disease showed a decreased work tolerance caused by impaired oxygen delivery. The anaerobic threshold is reached sooner in patients with sickle cell disease and may also account for the limitations in work capacity of these patients. PMID:3418733

  4. Transfusion of sickle cells may be a therapeutic option for patients suffering metastatic disease.

    PubMed

    Goldberg, Joel S

    2010-04-01

    Red blood cells from patients with sickle cell disease will sickle under conditions of hypoxemia and acidosis which is a similar milieu found in malignant tumors. While control of tumor angiogenesis has long been a goal of cancer therapy, selective occlusion of tumor blood supply may be achieved by transfusion of sickle cells into patients who suffer metastatic cancer. Although this potential therapy has not been previously reported in the medical literature, the concept may have been elusive to medical mainstream thinking because it requires transfusion of diseased cells. For this therapy to be effective, other environmental factors may need to be manipulated such inducing mild hypoxemia or hypercarbia (respiratory acidosis) to induce red cell sickling. Preliminary evidence supportive of this therapeutic approach to cancer treatment is provided by case evidence that sickle cell occlusion of a malignant brain tumor (glioma) produced tumor necrosis. Also sickle cells have been successfully transfused into primates. Furthermore, donor blood is crossmatched and transfused into patients suffering from sickle cell disease regularly in clinics and this procedure is associated with acceptable morbidity. Most importantly, animal models of sickle cell disease and cancer currently exist, and this theory could be tried with available technologies including ultrasound detection of vaso-occlusion. While the proposed therapy may not cure metastatic cancer, this treatment could prove useful for decreasing the size and perhaps the pain from metastatic tumor burden. Therefore, it is hypothesized that ABO Rh compatible crossmatched sickle cells transfused into patients who suffer metastatic cancer under controlled conditions of blood oxygenation and pH will selectively produce vaso-occlusive infarcts in malignant tumors and be a useful therapy. The author hopes for further investigations. PMID:20022432

  5. [A multiprofessional team for children living with sickle-cell anemia].

    PubMed

    Mensah, Sandrine; Perrin, Amélie; Vandaele, Marie

    2013-01-01

    Sickle-cell anaemia is a rare hereditary disease characterised by abnormal blood cells. It causes highly painful vaso-occlusive crises. Multi-professional care is encouraged through the intervention of a network. PMID:24228333

  6. Respiratory symptoms and acute painful episodes in sickle cell disease.

    PubMed

    Jacob, Eufemia; Sockrider, Marianna M; Dinu, Marlen; Acosta, Monica; Mueller, Brigitta U

    2010-01-01

    The authors examined the prevalence of respiratory symptoms and determined whether respiratory symptoms were associated with prevalence of chest pain and number of acute painful episodes in children and adolescents with sickle cell disease. Participants (N = 93; 44 females, 49 males; mean age 9.8 +/- 4.3 years) reported coughing in the morning (21.5%), at night (31.2%), and during exercise (30.1%). Wheezing occurred both when they had a cold or infection (29.0%) and when they did not have (23.7%) a cold or infection. Sleep was disturbed by wheezing in 20.4%. Among the 76 patients who were school-age (>5 years), 19.7% of patients missed more than 4 days of school because of respiratory symptoms. The majority of patients reported having acute painful episodes (82.8%), and most (66.7%) reported having chest pain during acute painful episodes in the previous 12 months. Participants with acute pain episodes greater than 3 during the previous 12 months had significantly higher reports of breathing difficulties (P = .01) and chest pain (P = .002). The high number of respiratory symptoms (cough and wheeze) among patients with sickle cell disease may trigger acute painful episodes. Early screening and recognition, ongoing monitoring, and proactive management of respiratory symptoms may minimize the number of acute painful episodes. PMID:20038672

  7. Splenectomy in Patients with Sickle Cell Disease in Tabuk

    PubMed Central

    Ghmaird, Asmaa; Alnoaiji, Mohammad Mohammad; Al-Blewi, Sawsan; Zaki, Shaimaa; El-lewi, Ahmad; Ahmad, Nehal

    2016-01-01

    BACKGROUND: Sickle cell disease is a common genetic disease in Saudi Arabia; it is an autosomal recessive disorder characterized by production of abnormal hemoglobin S and is associated with high morbidity and mortality. Acute splenic sequestration is a life-threatening complication for this disease. Prophylactic splenectomy is the only effective strategy for preventing future life-threatening episodes. AIM: The aim of this study was to study hospital records for all children aged 2 to 12 year old with Sickle cell disease who underwent splenectomy in Tabuk in Saudi Arabia. METHODS: Records of 24 children (13 males, 11 females) who underwent splenectomy in surgery department of King Salman North West Armed Hospital, Tabuk, Saudi Arabia between 2008 and 2015 were reviewed retrospectively and analyzed for age, sex, indications for splenectomy, surgical technique, preoperative and postoperative length of stay, operative and postoperative complications, acute chest syndrome, painful crises, blood transfusion and fever (preoperative and postoperative). RESULTS: We stressed on the information about the details of operation, the frequency of blood transfusion, fever, acute chest syndrome and painful crisis before and after operation. CONCLUSION: Here we found that blood transfusion frequency decreased after splenectomy.

  8. Traditional Herbal Management of Sickle Cell Anemia: Lessons from Nigeria

    PubMed Central

    Ameh, Sunday J.; Tarfa, Florence D.; Ebeshi, Benjamin U.

    2012-01-01

    Background. Patients in West Africa where sickle cell anemia (SCA) is endemic have for ages been treated with natural products, especially herbs, as, is still the case in rural communities. Objective. In this paper we look closely at some of these herbs to see if there are any lessons to be learnt or clues to be found for optimizing the treatments based on them, as had been done in the case of NIPRISAN, which was developed from herbs in Nigeria based on Yoruba Medicine. Methods. Select publications on SCA, its molecular biology and pathology, and actual and experimental cases of herbal treatment were perused in search of molecular clues that can be linked to chemical constituents of the herbs involved. Results. The study revealed that during the last 2-3 decades, much progress was made in several aspects of SCA pharmacology, especially the approval of hydroxyurea. As for SCA herbalism, this paper revealed that antisickling herbs abound in West Africa and that the most promising may yet be found. Three new antisickling herbs (Entandrophragma utile, Chenopodium ambrosioides, and Petiveria alliacea) were reported in May 2011. At NIPRD, where NIPRISAN was developed, three other recipes are currently awaiting development. Conclusion. The study raised the hope that the search in the Tropics for more effective herbal recipes for managing sickle cell anaemia will be more fruitful with time and effort. PMID:23198140

  9. Sickle cell anemia: does myocardial ischemia occur during crisis?

    PubMed Central

    Norris, S.; Johnson, C. S.; Haywood, L. J.

    1991-01-01

    The possibility that myocardial ischemia may be associated with chest pain during painful crises was evaluated prospectively in 20 patients (11 women and nine men) with sickle cell disease (19 SS, 1 S beta + thalassemia). Sixteen of 20 (80%) had abnormal ECGs, 7 (35%) had transient ST-T wave changes, and 3 (15%) had persistent ST-T wave changes, both consistent with ischemia; 6 (30%) had nonspecific ST-T changes, and 4 (20%) had normal tracings. Serum enzymes (CK, SGOT, LDH) were abnormal in 16 of 19 (84%); 1 had CK-MB detected, (5%) and 1 had LDH1 to LDH2 reversal. All 10 Tc-99m pyrophosphate scans performed were negative; 4 of 6 (66%) thallium-201 scans had focal defects, and 5 of 8 (63%) radionuclide angiograms (MUGAs) had focal wall motion abnormalities. Three of 8 (38%) MUGAs showed cardiac dilation, diffuse hypokinesis, and reduced ejection fractions. Thus, myocardial damage may be a potentially serious complication of patients with sickle cell anemia who present with chest pain during painful crises. Studies are indicated to define the significance and pathophysiology of these observations. PMID:2038080

  10. Traditional herbal management of sickle cell anemia: lessons from Nigeria.

    PubMed

    Ameh, Sunday J; Tarfa, Florence D; Ebeshi, Benjamin U

    2012-01-01

    Background. Patients in West Africa where sickle cell anemia (SCA) is endemic have for ages been treated with natural products, especially herbs, as, is still the case in rural communities. Objective. In this paper we look closely at some of these herbs to see if there are any lessons to be learnt or clues to be found for optimizing the treatments based on them, as had been done in the case of NIPRISAN, which was developed from herbs in Nigeria based on Yoruba Medicine. Methods. Select publications on SCA, its molecular biology and pathology, and actual and experimental cases of herbal treatment were perused in search of molecular clues that can be linked to chemical constituents of the herbs involved. Results. The study revealed that during the last 2-3 decades, much progress was made in several aspects of SCA pharmacology, especially the approval of hydroxyurea. As for SCA herbalism, this paper revealed that antisickling herbs abound in West Africa and that the most promising may yet be found. Three new antisickling herbs (Entandrophragma utile, Chenopodium ambrosioides, and Petiveria alliacea) were reported in May 2011. At NIPRD, where NIPRISAN was developed, three other recipes are currently awaiting development. Conclusion. The study raised the hope that the search in the Tropics for more effective herbal recipes for managing sickle cell anaemia will be more fruitful with time and effort. PMID:23198140

  11. [The importance of genetic counseling at sickle cell anemia].

    PubMed

    Guimarães, Cínthia Tavares Leal; Coelho, Gabriela Ortega

    2010-06-01

    The genetic counseling has the purpose of guiding people through a conscientious and balanced decision making process regarding procreation, helping them to understand how the hereditary succession can contribute for the occurrence or risk of recurrence of genetic illnesses, as it is the case of the sickle cell anemia. This type of anemia is the most prevalence hereditary illness in Brazil and has clinical complications that can harm the development, the quality of life and lead to death. The present article has the objective to clarify the importance of the genetic counseling for the anemia carriers or falciform trace, aiming at to point out the main characteristics of this illness, its complications and how the diagnosis is made. The study was based on the bibliographical method, looking for studies that deal with this type of anemia and genetic counseling, relating them with guidelines and data from the Health Ministry. Based on the found data, we infer the importance of genetic counseling for the individuals who present the heterozygote form of sickle cell anemia - the falcemic trace - and highlight the need to implement precocious diagnostics programs and genetic and social/psychological orientation for those with the disease or falciform trace. PMID:20640335

  12. A biophysical marker of severity in sickle cell disease

    PubMed Central

    Wood, David K.; Soriano, Alicia; Mahadevan, L.; Higgins, John M.; Bhatia, Sangeeta N.

    2013-01-01

    The search for predictive biomarkers of disease has largely focused on molecular indicators; however, mechanical and biophysical markers, which can integrate multiple pathways across length scales, may provide a more global picture of the underlying pathophysiology. Sickle cell disease, the first disease to have its molecular origins decoded, affects millions of people worldwide and has been studied intensively at the molecular, cellular, tissue and organismal level for a century since its initial description. However, there are still few, if any, markers that allow us to characterize the severity of this disease. Because the complications of sickle cell disease are largely due to vaso-occlusive events, we hypothesized that a physical metric characterizing the vaso-occlusive process could serve as a marker of disease severity. Here we use a simple microfluidic device to characterize the dynamics of jamming in physiologically relevant conditions, using the rate of change of the resistance to flow following a sudden deoxygenation event. Our studies show that this single biophysical parameter could be used to distinguish between patients with divergent clinical outcomes, unlike existing laboratory tests. Our assay provides a biophysical marker of disease severity that could be used to guide timing of clinical interventions, to monitor the progression of the disease, and to measure the efficacy of drug response, transfusion, and novel small molecules in an in vitro setting. PMID:22378926

  13. Sickle cell disease: Selected aspects of pathophysiology1

    PubMed Central

    Alexy, T.; Sangkatumvong, S.; Connes, P.; Pais, E.; Tripette, J.; Barthelemy, J.C.; Fisher, T.C.; Meiselman, H.J.; Khoo, M.C.; Coates, T.D.

    2010-01-01

    Sickle cell disease (SCD), a genetically-determined pathology due to an amino acid substitution (i.e., valine for glutamic acid) on the beta-chain of hemoglobin, is characterized by abnormal blood rheology and periods of painful vascular occlusive crises. Sickle cell trait (SCT) is a typically benign variant in which only one beta chain is affected by the mutation. Although both SCD and SCT have been the subject of numerous studies, information related to neurological function and transfusion therapy is still incomplete: an overview of these areas is presented. An initial section provides pertinent background information on the pathology and clinical significance of these diseases. The roles of three factors in the clinical manifestations of the diseases are then discussed: hypoxia, autonomic nervous system regulation and blood rheology. The possibility of a causal relationship between these three factors and sudden death is also examined. It is concluded that further studies in these specific areas are warranted. It is anticipated that the outcome of such research is likely to provide valuable insights into the pathophysiology of SCD and SCT and will lead to improved clinical management and enhanced quality of life. PMID:20364061

  14. Sickle cell disease in Middle East Arab countries

    PubMed Central

    El-Hazmi, Mohsen A. F.; Al-Hazmi, Ali M.; Warsy, Arjumand S.

    2011-01-01

    The sickle cell (HbS) gene occurs at a variable frequency in the Middle Eastern Arab countries, with characteristic distribution patterns and representing an overall picture of blood genetic disorders in the region. The origin of the gene has been debated, but studies using β-globin gene haplotypes have ascertained that there were multiple origins for HbS. In some regions the HbS gene is common and exhibits polymorphism, while the reverse is true in others. A common causative factor for the high prevalence and maintenance of HbS and thalassaemia genes is malaria endemicity. The HbS gene also co-exists with other haemoglobin variants and thalassaemia genes and the resulting clinical state is referred to as sickle cell disease (SCD). In the Middle Eastern Arab countries, the clinical picture of SCD expresses two distinct forms, the benign and the severe forms, which are related to two distinct β-globin gene haplotypes. These are referred to as the Saudi-Indian and the Benin haplotypes, respectively. In a majority of the Middle Eastern Arab countries the HbS is linked to the Saudi-Indian haplotype, while in others it is linked to the Benin haplotype. This review outlines the frequency, distribution, clinical feature, management and prevention as well as gene interactions of the HbS genes with other haemoglobin disorders in the Middle Eastern Arab countries. PMID:22199098

  15. Sickle cell disease in Middle East Arab countries.

    PubMed

    El-Hazmi, Mohsen A F; Al-Hazmi, Ali M; Warsy, Arjumand S

    2011-11-01

    The sickle cell (HbS) gene occurs at a variable frequency in the Middle Eastern Arab countries, with characteristic distribution patterns and representing an overall picture of blood genetic disorders in the region. The origin of the gene has been debated, but studies using β-globin gene haplotypes have ascertained that there were multiple origins for HbS. In some regions the HbS gene is common and exhibits polymorphism, while the reverse is true in others. A common causative factor for the high prevalence and maintenance of HbS and thalassaemia genes is malaria endemicity. The HbS gene also co-exists with other haemoglobin variants and thalassaemia genes and the resulting clinical state is referred to as sickle cell disease (SCD). In the Middle Eastern Arab countries, the clinical picture of SCD expresses two distinct forms, the benign and the severe forms, which are related to two distinct β-globin gene haplotypes. These are referred to as the Saudi-Indian and the Benin haplotypes, respectively. In a majority of the Middle Eastern Arab countries the HbS is linked to the Saudi-Indian haplotype, while in others it is linked to the Benin haplotype. This review outlines the frequency, distribution, clinical feature, management and prevention as well as gene interactions of the HbS genes with other haemoglobin disorders in the Middle Eastern Arab countries. PMID:22199098

  16. A Comprehensive Fluid Dynamic-Diffusion Model of Blood Microcirculation with Focus on Sickle Cell Disease

    NASA Astrophysics Data System (ADS)

    Le Floch, Francois; Harris, Wesley L.

    2009-11-01

    A novel methodology has been developed to address sickle cell disease, based on highly descriptive mathematical models for blood flow in the capillaries. Our investigations focus on the coupling between oxygen delivery and red blood cell dynamics, which is crucial to understanding sickle cell crises and is unique to this blood disease. The main part of our work is an extensive study of blood dynamics through simulations of red cells deforming within the capillary vessels, and relies on the use of a large mathematical system of equations describing oxygen transfer, blood plasma dynamics and red cell membrane mechanics. This model is expected to lead to the development of new research strategies for sickle cell disease. Our simulation model could be used not only to assess current researched remedies, but also to spur innovative research initiatives, based on our study of the physical properties coupled in sickle cell disease.

  17. Comparative Analysis of Pain Behaviours in Humanized Mouse Models of Sickle Cell Anemia.

    PubMed

    Lei, Jianxun; Benson, Barbara; Tran, Huy; Ofori-Acquah, Solomon F; Gupta, Kalpna

    2016-01-01

    Pain is a hallmark feature of sickle cell anemia (SCA) but management of chronic as well as acute pain remains a major challenge. Mouse models of SCA are essential to examine the mechanisms of pain and develop novel therapeutics. To facilitate this effort, we compared humanized homozygous BERK and Townes sickle mice for the effect of gender and age on pain behaviors. Similar to previously characterized BERK sickle mice, Townes sickle mice show more mechanical, thermal, and deep tissue hyperalgesia with increasing age. Female Townes sickle mice demonstrate more hyperalgesia compared to males similar to that reported for BERK mice and patients with SCA. Mechanical, thermal and deep tissue hyperalgesia increased further after hypoxia/reoxygenation (H/R) treatment in Townes sickle mice. Together, these data show BERK sickle mice exhibit a significantly greater degree of hyperalgesia for all behavioral measures as compared to gender- and age-matched Townes sickle mice. However, the genetically distinct "knock-in" strategy of human α and β transgene insertion in Townes mice as compared to BERK mice, may provide relative advantage for further genetic manipulations to examine specific mechanisms of pain. PMID:27494522

  18. Comparative Analysis of Pain Behaviours in Humanized Mouse Models of Sickle Cell Anemia

    PubMed Central

    Lei, Jianxun; Benson, Barbara; Tran, Huy; Ofori-Acquah, Solomon F.; Gupta, Kalpna

    2016-01-01

    Pain is a hallmark feature of sickle cell anemia (SCA) but management of chronic as well as acute pain remains a major challenge. Mouse models of SCA are essential to examine the mechanisms of pain and develop novel therapeutics. To facilitate this effort, we compared humanized homozygous BERK and Townes sickle mice for the effect of gender and age on pain behaviors. Similar to previously characterized BERK sickle mice, Townes sickle mice show more mechanical, thermal, and deep tissue hyperalgesia with increasing age. Female Townes sickle mice demonstrate more hyperalgesia compared to males similar to that reported for BERK mice and patients with SCA. Mechanical, thermal and deep tissue hyperalgesia increased further after hypoxia/reoxygenation (H/R) treatment in Townes sickle mice. Together, these data show BERK sickle mice exhibit a significantly greater degree of hyperalgesia for all behavioral measures as compared to gender- and age-matched Townes sickle mice. However, the genetically distinct “knock-in” strategy of human α and β transgene insertion in Townes mice as compared to BERK mice, may provide relative advantage for further genetic manipulations to examine specific mechanisms of pain. PMID:27494522

  19. The in vitro antisickling and antioxidant effects of aqueous extracts Zanthoxyllum heitzii on sickle cell disorder

    PubMed Central

    2013-01-01

    Background Several plant extracts from Rutaceae family are currently used to the management of sickle cell disorder (SCD) in the African. Few reports have shown that extracts from Zanthoxyllum or Fagara genus demonstrated anti-sickling property. This study investigates the in vitro antisickling and antioxidant properties of extracts from Zanthoxyllum heitzii. Methods The sickling of red blood cells (RBCs) was induced using sodium metabisulfite (2%) followed by treatment with extracts at different concentrations. The osmotic fragility tests permits to explore the effect of Z. heitzii extracts on haemoglobin S solubility and sickle cells membrane stability. For each extract, qualitative phytochemical tests were used to identify the presence of alkaloids, tannins, saponins, flavonoids, glycosides and phenols, while some quantitative methods such as Folin, Ferric Reducing Antioxidant Power (FRAP) and diphenyl 1, 2 picryl hydrazyl (DPPH) were used to determine the antioxidant potential of these extracts. Results Sodium metabisulphite increased the sickling of RBCs from 29.62 to 55.46% during 2 h. Treatment of sickling cells with extracts at different concentrations showed that a decrease of the percentage of sickling cells was found in both induced and non induced sickling cells. The fruits extract of Z. heitzii demonstrated the best anti-sickling property. The same extract at 250 μg/mL showed the best membrane cell stability compared to others. All the extracts revealed an antioxidant and anti-radical activities although lesser compared to the standard. Conclusion The fruit extract of Z. Heitzii demonstrated the most significant antisickling effect with a potential for use in the clinical management of SCD. PMID:23829696

  20. Monoclonal antibodies specific for sickle cell hemoglobin

    SciTech Connect

    Jensen, R.H.; Vanderlaan, M.; Grabske, R.J.; Branscomb, E.W.; Bigbee, W.L.; Stanker, L.H.

    1985-01-01

    Two mouse hybridoma cell lines were isolated which produce monoclonal antibodies that bind hemoglobin S. The mice were immunized with peptide-protein conjugates to stimulate a response to the amino terminal peptide of the beta chain of hemoglobin S, where the single amino acid difference between A and S occurs. Immunocharacterization of the antibodies shows that they bind specifically to the immunogen peptide and to hemoglobin S. The specificity for S is high enough that one AS cell in a mixture with a million AA cells is labeled by antibody, and such cells can be analyzed by flow cytometry. Immunoblotting of electrophoretic gels allows definitive identification of hemoglobin S as compared with other hemoglobins with similar electrophoretic mobility. 12 references, 4 figures.

  1. Genetics Home Reference: sickle cell disease

    MedlinePlus

    ... disease is a group of disorders that affects hemoglobin , the molecule in red blood cells that delivers ... the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood ...

  2. Inflammatory targets of therapy in sickle cell disease.

    PubMed

    Owusu-Ansah, Amma; Ihunnah, Chibueze A; Walker, Aisha L; Ofori-Acquah, Solomon F

    2016-01-01

    Sickle cell disease (SCD) is a monogenic globin disorder characterized by the production of a structurally abnormal hemoglobin (Hb) variant Hb S, which causes severe hemolytic anemia, episodic painful vaso-occlusion, and ultimately end-organ damage. The primary disease pathophysiology is intracellular Hb S polymerization and consequent sickling of erythrocytes. It has become evident for more than several decades that a more complex disease process contributes to the myriad of clinical complications seen in patients with SCD with inflammation playing a central role. Drugs targeting specific inflammatory pathways therefore offer an attractive therapeutic strategy to ameliorate many of the clinical events in SCD. In addition, they are useful tools to dissect the molecular and cellular mechanisms that promote individual clinical events and for developing improved therapeutics to address more challenging clinical dilemmas such as refractoriness to opioids or hyperalgesia. Here, we discuss the prospect of targeting multiple inflammatory pathways implicated in the pathogenesis of SCD with a focus on new therapeutics, striving to link the actions of the anti-inflammatory agents to a defined pathobiology, and specific clinical manifestations of SCD. We also review the anti-inflammatory attributes and the cognate inflammatory targets of hydroxyurea, the only Food and Drug Administration-approved drug for SCD. PMID:26226206

  3. Emerging science of hydroxyurea therapy for pediatric sickle cell disease.

    PubMed

    Green, Nancy S; Barral, Sandra

    2014-01-01

    Hydroxyurea (HU) is the sole approved pharmacological therapy for sickle cell disease (SCD). Higher levels of fetal hemoglobin (HbF) diminish deoxygenated sickle globin polymerization in vitro and clinically reduce the incidence of disease morbidities. Clinical and laboratory effects of HU largely result from induction of HbF expression, though to a highly variable extent. Baseline and HU-induced HbF expression are both inherited complex traits. In children with SCD, baseline HbF remains the best predictor of drug-induced levels, but this accounts for only a portion of the induction. A limited number of validated genetic loci are strongly associated with higher baseline HbF levels in SCD. For induced HbF levels, genetic approaches using candidate single-nucleotide polymorphisms (SNPs) have identified some of these same loci as being also associated with induction. However, SNP associations with induced HbF are only partially independent of baseline levels. Additional approaches to understanding the impact of HU on HbF and its other therapeutic effects on SCD include pharmacokinetic, gene expression-based, and epigenetic analyses in patients and through studies in existing murine models for SCD. Understanding the genetic and other factors underlying the variability in therapeutic effects of HU for pediatric SCD is critical for prospectively predicting good responders and for designing other effective therapies. PMID:24252885

  4. Emerging Biobehavioral Factors of Fatigue in Sickle Cell Disease

    PubMed Central

    Ameringer, Suzanne; Smith, Wally R.

    2010-01-01

    Purpose The symptom most frequently associated with sickle cell disease (SCD) is pain, but recent research is beginning to indicate that fatigue as an increasingly important symptom of this disease upon which to focus research efforts. This article explores biological and behavioral factors that can potentially contribute to fatigue in SCD. Organizing Framework A biobehavioral framework guides this discussion of factors that may contribute to SCD fatigue. Findings The pathophysiology of the disease process, such as the profound hemolytic anemia and unpredictable vasoocclusive crises, suggests that individuals with SCD are at risk for both acute and chronic fatigue. For example, hypoxemia can cause muscle weakness and produce oxidative stress, which, in turn, increases fatigue. Sickled erythrocytes disrupt the vascular endothelium and stimulate proinflammatory cytokines, which are linked to sleep disruptions. Pain, the most notorious symptom of SCD, has a complex and mechanistically poorly understood relationship with fatigue. Conclusions Little is known about the symptom of fatigue in SCD. Considering the biological and behavioral factors of SCD that could potentially contribute to fatigue, there is a great need for research on the nature and potential mechanisms of fatigue in SCD. Clinical Relevance Fatigue in SCD may negatively affect quality of life. Understanding factors that may contribute to fatigue aids the clinician in identifying causes and determining treatment. PMID:21342421

  5. Disseminated nontuberculous mycobacterial infections in sickle cell anemia patients.

    PubMed

    Thorell, Emily A; Sharma, Mukta; Jackson, Mary Anne; Selvarangan, Rangaraj; Woods, Gerald M

    2006-10-01

    Nontuberculous mycobacteria (NTM) are ubiquitous in nature and have been implicated in skin/soft-tissue, pulmonary, middle ear, bone, and surgical/traumatic wound infections. Disseminated disease occurs infrequently and almost exclusively in the immunocompromised. We describe the first 2 reported cases of disseminated Mycobacterium fortuitum infection in teenagers with sickle hemoglobinopathy. Both had central venous catheters (CVCs), frequent admissions for vaso-occlusive painful episode and received hydroxyurea. Diagnosis was confirmed by multiple positive blood cultures and pulmonary dissemination occurred in both. Both had successful treatment after CVC removal and combination drug therapy. Positive cultures persisted in 1 patient due to drug resistance emphasizing the need for accurate susceptibility data. NTM infection should be added to the list of pathogens in sickle cell patients with CVCs and fever. Investigation for disseminated disease should be undertaken based on clinical signs and symptoms. Although some routine blood culture systems can identify NTM, specific mycobacterial blood culture is optimal. Removal of involved CVCs is essential and treatment of NTM must be guided by susceptibilities. As dissemination almost always occurs in those with impaired cellular immunity, human immunodeficiency virus testing should be performed. Hydroxyurea may be a risk factor for dissemination and needs further evaluation. PMID:17023829

  6. Vasculopathy and pulmonary hypertension in sickle cell disease.

    PubMed

    Potoka, Karin P; Gladwin, Mark T

    2015-02-15

    Sickle cell disease (SCD) is an autosomal recessive disorder in the gene encoding the β-chain of hemoglobin. Deoxygenation causes the mutant hemoglobin S to polymerize, resulting in rigid, adherent red blood cells that are entrapped in the microcirculation and hemolyze. Cardinal features include severe painful crises and episodic acute lung injury, called acute chest syndrome. This population, with age, develops chronic organ injury, such as chronic kidney disease and pulmonary hypertension. A major risk factor for developing chronic organ injury is hemolytic anemia, which releases red blood cell contents into the circulation. Cell free plasma hemoglobin, heme, and arginase 1 disrupt endothelial function, drive oxidative and inflammatory stress, and have recently been referred to as erythrocyte damage-associated molecular pattern molecules (eDAMPs). Studies suggest that in addition to effects of cell free plasma hemoglobin on scavenging nitric oxide (NO) and generating reactive oxygen species (ROS), heme released from plasma hemoglobin can bind to the toll-like receptor 4 to activate the innate immune system. Persistent intravascular hemolysis over decades leads to chronic vasculopathy, with ∼10% of patients developing pulmonary hypertension. Progressive obstruction of small pulmonary arterioles, increase in pulmonary vascular resistance, decreased cardiac output, and eventual right heart failure causes death in many patients with this complication. This review provides an overview of the pathobiology of hemolysis-mediated endothelial dysfunction and eDAMPs and a summary of our present understanding of diagnosis and management of pulmonary hypertension in sickle cell disease, including a review of recent American Thoracic Society (ATS) consensus guidelines for risk stratification and management. PMID:25398989

  7. Vasculopathy and pulmonary hypertension in sickle cell disease

    PubMed Central

    Potoka, Karin P.

    2014-01-01

    Sickle cell disease (SCD) is an autosomal recessive disorder in the gene encoding the β-chain of hemoglobin. Deoxygenation causes the mutant hemoglobin S to polymerize, resulting in rigid, adherent red blood cells that are entrapped in the microcirculation and hemolyze. Cardinal features include severe painful crises and episodic acute lung injury, called acute chest syndrome. This population, with age, develops chronic organ injury, such as chronic kidney disease and pulmonary hypertension. A major risk factor for developing chronic organ injury is hemolytic anemia, which releases red blood cell contents into the circulation. Cell free plasma hemoglobin, heme, and arginase 1 disrupt endothelial function, drive oxidative and inflammatory stress, and have recently been referred to as erythrocyte damage-associated molecular pattern molecules (eDAMPs). Studies suggest that in addition to effects of cell free plasma hemoglobin on scavenging nitric oxide (NO) and generating reactive oxygen species (ROS), heme released from plasma hemoglobin can bind to the toll-like receptor 4 to activate the innate immune system. Persistent intravascular hemolysis over decades leads to chronic vasculopathy, with ∼10% of patients developing pulmonary hypertension. Progressive obstruction of small pulmonary arterioles, increase in pulmonary vascular resistance, decreased cardiac output, and eventual right heart failure causes death in many patients with this complication. This review provides an overview of the pathobiology of hemolysis-mediated endothelial dysfunction and eDAMPs and a summary of our present understanding of diagnosis and management of pulmonary hypertension in sickle cell disease, including a review of recent American Thoracic Society (ATS) consensus guidelines for risk stratification and management. PMID:25398989

  8. Spectral detection of sickle cell anemia and thalassemia.

    PubMed

    Masilamani, V; Al Salhi, M S; Devanesan, S; Algahtani, Farjah H; Abu-Salah, Khalid M; Ahamad, I; Agastian, P

    2013-12-01

    Sickle cell disease (SCD) and thalassemia (Thal) are the most common inherited, autosomal, recessive blood disorders which lead to complications such as vasoocclusion and splenomegaly. Patients who suffer from these diseases have poor quality of life and shorter life span. The most common techniques for detection of these diseases are complete blood cell count, followed by electrophoresis and high performance liquid chromatography. In this connection, the results of this paper indicate the potential of a new technique, based on spectral analysis of blood plasma and cellular components, to detect SCD and Thal with accuracy of 90% and above. To the best of our knowledge this would be the first report on spectral pathology of hemoglobinopathy. PMID:24284096

  9. Tract specific analysis in patients with sickle cell disease

    NASA Astrophysics Data System (ADS)

    Chai, Yaqiong; Coloigner, Julie; Qu, Xiaoping; Choi, Soyoung; Bush, Adam; Borzage, Matt; Vu, Chau; Lepore, Natasha; Wood, John

    2015-12-01

    Sickle cell disease (SCD) is a hereditary blood disorder in which the oxygen-carrying hemoglobin molecule in red blood cells is abnormal. It affects numerous people in the world and leads to a shorter life span, pain, anemia, serious infections and neurocognitive decline. Tract-Specific Analysis (TSA) is a statistical method to evaluate white matter alterations due to neurocognitive diseases, using diffusion tensor magnetic resonance images. Here, for the first time, TSA is used to compare 11 major brain white matter (WM) tracts between SCD patients and age-matched healthy subjects. Alterations are found in the corpus callosum (CC), the cortico-spinal tract (CST), inferior fronto-occipital fasciculus (IFO), inferior longitudinal fasciculus (ILF), superior longitudinal fasciculus (SLF), and uncinated fasciculus (UNC). Based on previous studies on the neurocognitive functions of these tracts, the significant areas found in this paper might be related to several cognitive impairments and depression, both of which are observed in SCD patients.

  10. The Genetics of Hemoglobin A2 Regulation in Sickle Cell Anemia

    PubMed Central

    Griffin, Paula J.; Sebastiani, Paola; Edward, Heather; Baldwin, Clinton T.; Gladwin, Mark; Gordeuk, Victor; Chui, David H.K.; Steinberg, Martin H.

    2014-01-01

    Hemoglobin A2, a tetramer of α- and δ-globin chains, comprises less than 3% of total hemoglobin in normal adults. In northern Europeans, single nucleotide polymorphisms (SNPs) in the HBS1L-MYB locus on chromosome 6q and the HBB cluster on chromosome 11p were associated with HbA2 levels. We examined the genetic basis of HbA2 variability in sickle cell anemia using genome-wide association studies (GWAS). HbA2 levels were associated with SNPs in the HBS1L-MYB interval that affect erythropoiesis and HbF expression and SNPs in BCL11A that regulate the γ-globin genes. These effects are mediated by the association of these loci with γ-globin gene expression and fetal hemoglobin (HbF) levels. The association of polymorphisms downstream of the β-globin gene (HBB) cluster on chromosome 11 with HbA2 was not mediated by HbF. In sickle cell anemia, levels of HbA2 appear to be modulated by trans-acting genes that affect HBG expression and perhaps also elements within the β-globin gene cluster. HbA2 is expressed pancellularly and can inhibit HbS polymerization. It remains to be seen if genetic regulators of HbA2 can be exploited for therapeutic purposes. PMID:25042611

  11. Proteomic identification of altered apolipoprotein patterns in pulmonary hypertension and vasculopathy of sickle cell disease

    PubMed Central

    Yuditskaya, Susan; Tumblin, Ashaunta; Hoehn, Gerard T.; Wang, Guanghui; Drake, Steven K.; Xu, Xiuli; Ying, Saixia; Chi, Amy H.; Remaley, Alan T.; Shen, Rong-Fong; Munson, Peter J.; Suffredini, Anthony F.

    2009-01-01

    Pulmonary arterial hypertension (PAH) is emerging as a major complication and independent risk factor for death among adults with sickle cell disease (SCD). Using surface-enhanced laser desorption/ionization time of flight mass spectrometry (SELDI-TOF MS), we searched for biomarkers of PAH in plasma specimens from 27 homozygous sickle cell anemia (HbSS) patients with PAH and 28 without PAH. In PAH patients, analysis consistently showed lower abundance of a 28.1-kDa peak (P < .001), identified by high-resolution mass spectrometry as the oxidant-scavenging protein apolipoprotein A-I (apoA-I), which correlated with clinical assays of apoA-I (r = .58, P < .001) and high-density lipoprotein (HDL) levels (r = .50, P = .001). Consistent with endothelial dysfunction that may mediate this effect in PAH, HbSS patients with lower apoA-I levels also displayed impaired vasodilatory responses to acetylcholine (mean ± SEM, 189% ± 34% [n = 13] vs 339% ± 51% [n = 13], P < .001). As a group, patients with SCD demonstrated significantly lower apoA-I levels than African-American control subjects. The PAH cohort was further characterized by high levels of apolipoproteins A-II and B and serum amyloid A, and low levels of haptoglobin dimers and plasminogen. These results imply a relationship of apolipoproteins to the development of PAH vasculopathy in SCD, potentially involving an unexpected mechanistic parallel to atherosclerosis, another proliferative vasculopathy. PMID:19023114

  12. A Demonstration of the Molecular Basis of Sickle-Cell Anemia.

    ERIC Educational Resources Information Center

    Fox, Marty; Gaynor, John J.

    1996-01-01

    Describes a demonstration that permits the separation of different hemoglobin molecules within two to three hours. Introduces students to the powerful technique of gel electrophoresis and illustrates the molecular basis of sickle-cell anemia. (JRH)

  13. Sudden death due to sickle cell crisis during law enforcement restraint.

    PubMed

    Channa Perera, S D; Pollanen, Michael S

    2007-07-01

    We report a case of vaso-occlusive sickle cell crisis in a young schizophrenic man with undiagnosed sickle cell trait who was restrained. Prior to being restrained he had locked himself in his apartment for two days without food or water. He was subsequently restrained, and transferred to hospital while handcuffed to the stretcher. He died suddenly during restraint. At autopsy, there was acute vaso-occlusive sickle cell crisis associated with hypernatremic dehydration. There were no injuries present. We conclude that the death was due to vaso-occlusive sickle cell crisis secondary to dehydration. It is important for the forensic pathologist to remember that death may occur suddenly during restraint from an unexpected mechanism other than excited delirium leading to cardiac arrhythmia or restraint asphyxia. PMID:16914356

  14. Sickle Cell Research: Symptoms, Diagnosis, Treatment and Recent Developments | NIH MedlinePlus the Magazine

    MedlinePlus

    ... Sickle Cell Disease: Symptoms, Diagnosis, Treatment and Recent Developments Past Issues / Winter 2011 Table of Contents Symptoms ... identify children at high risk for strokes. Recent Developments Research on bone marrow transplants, gene therapy, and ...

  15. Association between somatic growth trajectory and cognitive functioning in young children with sickle cell disease.

    PubMed

    Puffer, Eve S; Schatz, Jeffrey C; Roberts, Carla W

    2016-08-01

    Children with sickle cell disease are at risk of cognitive deficits and somatic growth delays beginning in early childhood. We examined growth velocity from age 2 years (height and body mass index progression over time) and cognitive functioning in 46 children with sickle cell disease 4 to 8 years of age. Height-for-age velocity was not associated with cognitive outcomes. Higher body mass index velocity was associated with higher scores on global cognitive and visual-motor abilities but not processing resources or academic achievement. Body mass index progression over time may be a clinically useful indicator of neurocognitive risk in sickle cell disease, as it may reflect multiple sickle cell disease-related risk factors. PMID:25488939

  16. The lived experiences of adolescents with sickle cell disease in Kingston, Jamaica

    PubMed Central

    Forrester, Andrea Brown; Barton-Gooden, Antoinette; Pitter, Cynthia; Lindo, Jascinth L. M.

    2015-01-01

    Aim To explore the lived experiences of adolescents with sickle cell disease, in Kingston, Jamaica. Method A descriptive qualitative design was used for this research. In-depth interviews were conducted with six adolescents with sickle cell disease at a Sickle Cell Unit operated by the University of the West Indies. Interviews were audiotaped, transcribed, and thematically analyzed. Results The majority of the adolescents demonstrated a positive self-concept. They reported strong family, school, and peer support which made them feel accepted. All were actively engaged in social activities such as parties, but had challenges participating in sporting activities. Various coping strategies were utilized to address challenges of the disease including praying, watching television, and surfing the Internet. Conclusion Sickle cell disease can be very challenging for the adolescent, but with positive self-concept and increased social support, especially from family and peers, these adolescents were able to effectively cope with their condition and live productive lives. PMID:26341889

  17. Biologic Complexity in Sickle Cell Disease: Implications for Developing Targeted Therapeutics

    PubMed Central

    Gee, Beatrice E.

    2013-01-01

    Current therapy for sickle cell disease (SCD) is limited to supportive treatment of complications, red blood cell transfusions, hydroxyurea, and stem cell transplantation. Difficulty in the translation of mechanistically based therapies may be the result of a reductionist approach focused on individual pathways, without having demonstrated their relative contribution to SCD complications. Many pathophysiologic processes in SCD are likely to interact simultaneously to contribute to acute vaso-occlusion or chronic vasculopathy. Applying concepts of systems biology and network medicine, models were developed to show relationships between the primary defect of sickle hemoglobin (Hb S) polymerization and the outcomes of acute pain and chronic vasculopathy. Pathophysiologic processes such as inflammation and oxidative stress are downstream by-products of Hb S polymerization, transduced through secondary pathways of hemolysis and vaso-occlusion. Pain, a common clinical trials endpoint, is also complex and may be influenced by factors outside of sickle cell polymerization and vascular occlusion. Future sickle cell research needs to better address the biologic complexity of both sickle cell disease and pain. The relevance of individual pathways to important sickle cell outcomes needs to be demonstrated in vivo before investing in expensive and labor-intensive clinical trials. PMID:23589705

  18. Fetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies.

    PubMed

    Lettre, Guillaume; Bauer, Daniel E

    2016-06-18

    Sickle-cell disease affects millions of individuals worldwide, but the global incidence is concentrated in Africa. The burden of sickle-cell disease is expected to continue to rise over the coming decades, adding to stress on the health infrastructures of many countries. Although the molecular cause of sickle-cell disease has been known for more than half a century, treatment options remain greatly limited. Allogeneic haemopoietic stem-cell transplantation is the only existing cure but is limited to specialised clinical centres and remains inaccessible for most patients. Induction of fetal haemoglobin production is a promising strategy for the treatment of sickle-cell disease. In this Series paper, we review scientific breakthroughs in epidemiology, genetics, and molecular biology that have brought reactivation of fetal haemoglobin to the forefront of sickle-cell disease research. Improved knowledge of the regulation of fetal haemoglobin production in human beings and the development of genome editing technology now support the design of innovative therapies for sickle-cell disease that are based on fetal haemoglobin. PMID:27353686

  19. Frontal and orbital bone infarctions causing periorbital swelling in patients with sickle cell anemia

    SciTech Connect

    Garty, I.; Koren, A.; Garzozi, H.

    1984-10-01

    Two cases of unilateral and bilateral periorbital hematomas occurred in patients with sickle cell anemia. The cause of periorbital swelling in these cases was found to be orbital and frontal bone infarctions, respectively, diagnosed by technetium Tc 99m medronate bone scintigraphy. To our knowledge, periorbital bone infarction, as a part of the differential diagnosis of periorbital hematoma and as part of the possible ocular manifestations in patients with sickle cell anemia, has not previously been described.

  20. Sickle cell anemia patient with sarcoidosis-associated inguinal lymph node and lung infiltration.

    PubMed Central

    Güvenç, Birol; Unsal, Cagatay; Hanta, Ismail; Unsal, Aydan; Güvenç, Hakan

    2005-01-01

    Sarcoidosis is a chronic, systemic inflammatory disease of unknown etiology, characterized by noncaseating granulomatous infiltration of any organ. Sickle cell anemia (SCA) is the homozygoid form of sickle cell disease (SCD), which includes a group of genetic disorders characterized by production of an abnormal hemoglobin S (HbS). There are a few case reports with coexistence of sarcoidosis and SCA. We reported a 47-year-old female with SCA and sarcoidosis. Images Fig. 1 PMID:16035582

  1. Splenic uptake of both technetium-99m diphosphonate and technetium-99m sulfur colloid in sickle cell beta degrees thalassemia

    SciTech Connect

    Heck, L.L.; Brittin, G.M. )

    1989-08-01

    A 19-year-old black woman with sickle cell beta degrees thalassemia had experienced more than 100 hospital admissions for sickle cell crisis and aseptic necrosis of both femoral heads. Her spleen was enlarged threefold and accumulated both radiocolloid and bone-seeking agent on two occasions, demonstrating an exception to the rule in sickle cell anemia that spleens that take up bone-seeking agents demonstrate functional asplenia. In the context of fever, left upper quadrant pain, and splenomegaly, the pattern of calcification in the patient's spleen as revealed in ultrasound and CT studies suggested possible abscess and led to unnecessary splenectomy. The nuclear medicine studies did not support this diagnosis. Nuclear medicine physicians should not be misled by splenic findings of sickle cell thalassemia (and possibly of other heterozygous sickle cell disorders) that differ from those of the more familiar homozygous sickle cell anemia.

  2. Between black and miscegenated population groups: sickle cell anemia and sickle cell trait in Brazil in the 1930s and 1940s.

    PubMed

    Cavalcanti, Juliana Manzoni; Maio, Marcos Chor

    2011-06-01

    The article examines medical and scientific studies of sickle cell anemia published in Brazil in the 1930s and 1940s, when the vast majority of physicians and scientists believed that miscegenation played a significant role in the epidemiology of the disease in the country. Special focus is placed on hematologist Ernani Martins da Silva, of the Oswaldo Cruz Institute, who conducted blood analyses around the interior of Brazil with the purpose of classifying miscegenated and pure population groups based on the presence of sickle cells and the racial distribution of blood groups. The article explores the ambivalences stemming from associations between sickle cell anemia and the 'black race' during this period. PMID:21779692

  3. Health supervision for children with sickle cell disease.

    PubMed

    2002-03-01

    Sickle cell disease (SCD) is a group of complex genetic disorders with multisystem manifestations. This statement provides pediatricians in primary care and subspecialty practice with an overview of the genetics, diagnosis, clinical manifestations, and treatment of SCD. Specialized comprehensive medical care decreases morbidity and mortality during childhood. The provision of comprehensive care is a time-intensive endeavor that includes ongoing patient and family education, periodic comprehensive evaluations and other disease-specific health maintenance services, psychosocial care, and genetic counseling. Timely and appropriate treatment of acute illness is critical, because life-threatening complications develop rapidly. It is essential that every child with SCD receive comprehensive care that is coordinated through a medical home with appropriate expertise. PMID:11875155

  4. The metabolites of nitric oxide in sickle-cell disease.

    PubMed

    Rees, D C; Cervi, P; Grimwade, D; O'Driscoll, A; Hamilton, M; Parker, N E; Porter, J B

    1995-12-01

    Plasma NOx concentrations were raised in 22 acute painful crises in SCD. We have measured blood concentrations of nitric oxide metabolites (NOx) in sickle-cell disease (SCD), and shown that they are increased compared with healthy controls (P = 0.002), and haemoglobin E/beta-thalassaemic controls (P = 0.05). Concentrations in steady-state SCD were also higher than in healthy controls (P = 0.04) but not significantly different from the concentrations at the beginning of painful crises (P = 0.34). Importantly, in 12 regularly exchanged sicklers, the mean pre-transfusion NOx concentration did not differ significantly from the control population (P = 0.52), suggesting that the changes in NO metabolism can be reversed. It is unlikely that the increased concentrations of NOx in SCD result from anaemia or haemolysis as the untransfused haemoglobin E/beta-thalassaemics did not show increased levels. PMID:8547126

  5. Sickle cell disease: new opportunities and challenges in Africa.

    PubMed

    Makani, J; Ofori-Acquah, S F; Nnodu, O; Wonkam, A; Ohene-Frempong, K

    2013-01-01

    Sickle cell disease (SCD) is one of the most common genetic causes of illness and death in the world. This is a review of SCD in Africa, which bears the highest burden of disease. The first section provides an introduction to the molecular basis of SCD and the pathophysiological mechanism of selected clinical events. The second section discusses the epidemiology of the disease (prevalence, morbidity, and mortality), at global level and within Africa. The third section discusses the laboratory diagnosis and management of SCD, emphasizing strategies that been have proven to be effective in areas with limited resources. Throughout the review, specific activities that require evidence to guide healthcare in Africa, as well as strategic areas for further research, will be highlighted. PMID:25143960

  6. Preventing Infections in Sickle Cell Disease: The Unfinished Business.

    PubMed

    Obaro, Stephen K; Tam, P Y Iroh

    2016-05-01

    While encapsulated bacterial agents, particularly Streptococcus pneumoniae, are recognized as important microbes that are associated with serious illness in hosts with sickle cell disease (SCD), multiple pathogens are implicated in infectious manifestations of SCD. Variations in clinical practice have been an obstacle to the universal implementation of infection preventive management through active, targeted vaccination of these individuals and routine usage of antibiotic prophylaxis. Paradoxically, in low-income settings, there is evidence that SCD also increases the risk for several other infections that warrant additional infection preventive measures. The infection preventive care among patients with SCD in developed countries does not easily translate to the adoption of these recommendations globally, which must take into account the local epidemiology of infections, available vaccines and population-specific vaccine efficacy, environment, health care behaviors, and cultural beliefs, as these are all factors that play a complex role in the manifestation of SCD and the prevention of infectious disease morbidity. PMID:26840500

  7. Sickle Cell Disease: New Opportunities and Challenges in Africa

    PubMed Central

    Makani, J.; Ofori-Acquah, S. F.; Nnodu, O.; Wonkam, A.; Ohene-Frempong, K.

    2013-01-01

    Sickle cell disease (SCD) is one of the most common genetic causes of illness and death in the world. This is a review of SCD in Africa, which bears the highest burden of disease. The first section provides an introduction to the molecular basis of SCD and the pathophysiological mechanism of selected clinical events. The second section discusses the epidemiology of the disease (prevalence, morbidity, and mortality), at global level and within Africa. The third section discusses the laboratory diagnosis and management of SCD, emphasizing strategies that been have proven to be effective in areas with limited resources. Throughout the review, specific activities that require evidence to guide healthcare in Africa, as well as strategic areas for further research, will be highlighted. PMID:25143960

  8. Reflections on the current status of the national sickle cell disease program in the United States.

    PubMed

    Scott, R B

    1979-07-01

    Some clouds of concern now appear on the horizon for the national sickle cell disease program. There is flagging general attention by the black population and a dilution of interest in and visibility of the sickle cell problem brought about by political maneuvering to bring the program under the legislative umbrella of many other genetic diseases (which occur predominantly in Caucasians). In addition, the federal program has recently phased-out six comprehensive sickle cell centers and imposed budgetary cutbacks in the remaining centers. The victims of this disease, the black population in general, and the researchers and investigators who seek ways to bring this disease under control need reassurance from the current national administration that the sickle cell program will not be permitted to die a slow death from financial attrition, attenuation of interest, and skillful neglect leading to the phasing-out of another "minority project." The national sickle cell program, in the relatively short span of six years, has made significant and notable progress not only in research endeavor but also in improved patient care and community-wide education. In this context, certainly, the positive aspects of the national sickle cell disease program continue to far outweigh any negative ones.(1) PMID:529329

  9. Perception of primary care doctors and nurses about care provided to sickle cell disease patients

    PubMed Central

    Xavier Gomes, Ludmila Mourão; de Andrade Barbosa, Thiago Luis; Souza Vieira, Elen Débora; Caldeira, Antônio Prates; de Carvalho Torres, Heloísa; Viana, Marcos Borato

    2015-01-01

    Objective To analyze the perception of primary care physicians and nurses about access to services and routine health care provided to sickle cell disease patients. Methods This descriptive exploratory study took a qualitative approach by surveying thirteen primary care health professionals who participated in a focus group to discuss access to services and assistance provided to sickle cell disease patients. The data were submitted to thematic content analysis. Results Access to primary care services and routine care for sickle cell disease patients were the categories that emerged from the analysis. Interaction between people with sickle cell disease and primary care health clinics was found to be minimal and limited mainly to scheduling appointments. Patients sought care from the primary care health clinics only in some situations, such as for pain episodes and vaccinations. The professionals noted that patients do not recognize primary care as the gateway to the system, and reported that they feel unprepared to assist sickle cell disease patients. Conclusion In the perception of these professionals, there are restrictions to accessing primary care health clinics and the primary care assistance for sickle cell disease patients is affected. PMID:26190428

  10. Haptoglobin gene polymorphisms and interleukin-6 and -8 levels in patients with sickle cell anemia

    PubMed Central

    Pierrot-Gallo, Bruna Spinella; Vicari, Perla; Matsuda, Sandra Satiko; Adegoke, Samuel Ademola; Mecabo, Grazielle; Figueiredo, Maria Stella

    2015-01-01

    Background Haptoglobin genotypes, and interleukin-6 and -8 participate in the pathophysiology of sickle cell anemia. The expression of cytokines is regulated by genetic mechanisms however the effect of haptoglobin polymorphisms on these cytokines is not fully understood. This study aimed to compare the frequency of haptoglobin genotypes and the interleukin-6 and -8 concentrations in sickle cell anemia patients and controls to investigate the association between haptoglobin genotypes and cytokine levels. Methods Sixty sickle cell anemia patients and 74 healthy individuals were analyzed. Haptoglobin genotypes were determined by multiplex polymerase chain reaction, and the interleukin-6 and -8 levels by enzyme linked immunosorbent assay. The association between haptoglobin genotypes and cytokines was investigated by statistical tests. Results Hp2-1 was the most common genotype in both the cases and controls while Hp1-1 was less frequent among sickle cell anemia patients. Interleukin-6 and -8 levels were higher in patients than controls (p-value <0.0001). There was no significant difference in interleukin-6 and -8 concentrations between the genotypes (p-value >0.05). A similar trend was observed among the controls. Conclusion Although, levels of interleukin-6 and -8 were higher in the sickle cell anemia patients, they appeared not to be related to the haptoglobin genotypes. Further investigations are necessary to identify factors responsible for increased secretion of the interleukin-6 and -8 pro-inflammatory cytokines in patients with sickle cell anemia. PMID:26408368

  11. Definitions of the phenotypic manifestations of sickle cell disease.

    PubMed

    Ballas, Samir K; Lieff, Susan; Benjamin, Lennette J; Dampier, Carlton D; Heeney, Matthew M; Hoppe, Carolyn; Johnson, Cage S; Rogers, Zora R; Smith-Whitley, Kim; Wang, Winfred C; Telen, Marilyn J

    2010-01-01

    Sickle cell disease (SCD) is a pleiotropic genetic disorder of hemoglobin that has profound multiorgan effects. The low prevalence of SCD ( approximately 100,000/US) has limited progress in clinical, basic, and translational research. Lack of a large, readily accessible population for clinical studies has contributed to the absence of standard definitions and diagnostic criteria for the numerous complications of SCD and inadequate understanding of SCD pathophysiology. In 2005, the Comprehensive Sickle Cell Centers initiated a project to establish consensus definitions of the most frequently occurring complications. A group of clinicians and scientists with extensive expertise in research and treatment of SCD gathered to identify and categorize the most common complications. From this group, a formal writing team was formed that further reviewed the literature, sought specialist input, and produced definitions in a standard format. This article provides an overview of the process and describes 12 body system categories and the most prevalent or severe complications within these categories. A detailed Appendix provides standardized definitions for all complications identified within each system. This report proposes use of these definitions for studies of SCD complications, so future studies can be comparably robust and treatment efficacy measured. Use of these definitions will support greater accuracy in genotype-phenotype studies, thereby achieving a better understanding of SCD pathophysiology. This should nevertheless be viewed as a dynamic rather than final document; phenotype descriptions should be reevaluated and revised periodically to provide the most current standard definitions as etiologic factors are better understood, and new diagnostic options are developed. PMID:19902523

  12. Genetic determinants of haemolysis in sickle cell anaemia

    PubMed Central

    Milton, Jacqueline N.; Rooks, Helen; Drasar, Emma; McCabe, Elizabeth L.; Baldwin, Clinton T.; Melista, Efi; Gordeuk, Victor R.; Nouraie, Mehdi; Kato, Gregory R.; Minniti, Caterina; Taylor, James; Campbell, Andrew; Luchtman-Jones, Lori; Rana, Sohail; Castro, Oswaldo; Zhang, Yingze; Thein, Swee Lay; Sebastiani, Paola; Gladwin, Mark T.; Steinberg, Martin H.

    2014-01-01

    Summary Haemolytic anaemia is variable among patients with sickle cell anaemia and can be estimated by reticulocyte count, lactate dehydrogenase, aspartate aminotransferase and bilirubin levels. Using principal component analysis of these measurements we computed a haemolytic score that we used as a subphenotype in a genome-wide association study. We identified in one cohort and replicated in two additional cohorts the association of a single nucleotide polymorphism in NPRL3 (rs7203560; chr16p13·3) (P = 6·04 × 10−07). This association was validated by targeted genotyping in a fourth independent cohort. The HBA1/HBA2 regulatory elements, hypersensitive sites (HS)-33, HS-40 and HS-48 are located in introns of NPRL3. Rs7203560 was in perfect linkage disequilibrium (LD) with rs9926112 (r2 = 1) and in strong LD with rs7197554 (r2 = 0·75) and rs13336641 (r2 = 0·77); the latter is located between HS-33 and HS-40 sites and next to a CTCF binding site. The minor allele for rs7203560 was associated with the −∝3·7thalassaemia gene deletion. When adjusting for HbF and ∝ thalassaemia, the association of NPRL3 with the haemolytic score was significant (P = 0·00375) and remained significant when examining only cases without gene deletion∝ thalassaemia (P = 0·02463). Perhaps by independently down-regulating expression of the HBA1/HBA2 genes, variants of the HBA1/HBA2 gene regulatory loci, tagged by rs7203560, reduce haemolysis in sickle cell anaemia. PMID:23406172

  13. Asymptomatic Cholelithiasis in Children With Sickle Cell Disease

    PubMed Central

    Currò, Giuseppe; Meo, Anna; Ippolito, Daniela; Pusiol, Anna; Cucinotta, Eugenio

    2007-01-01

    Summary Background Data: Our study aimed to evaluate the role of elective laparoscopic cholecystectomy (LC) in children with sickle cell disease (SCD) and asymptomatic cholelithiasis and, furthermore, to determine whether the outcome is related to the operation timing. Methods: The records of 30 children with SCD diagnosed with cholelithiasis from June 1995 to September 2005 were retraspectively reviewed. All 30 children were asymptomatic at the time of the first visit, and an elective LC was proposed to all of them. The operation was accepted in the period of study by 16 children and refused by 14. During medical observation, 10 of the 14 children who refused surgery were admitted for severe biliary colics. Acute cholecystitis was diagnosed by abdominal ultrasound in 3 cases and in 1 case choledocholithiasis, ultrasonographically suspected, was confirmed by magnetic resonance cholangiopancreatography (MRCP) and treated during endoscopic retrograde cholangiopancreatography (ERCP). All children, emergency admitted, underwent LC after the onset of symptoms. The patients were divided up into 2 groups (A: asymptomatic; B: symptomatic) depending on clinical presentation and operation timing and the respective outcomes were compared. Results: Elective LC in asymptomatic children (group A) is safe with no major complications reported. During medical observation in children who refused elective surgery (group B), 6 biliary colics, 3 acute cholecystitis, and 1 choledocholithiasis were observed. Three sickle cell crises occurred in symptomatic children during biliary colics. The correlation between cholecystectomy performed in asymptomatic children (group A) and cholecystectomy performed in symptomatic children (group B) showed significant differences in the outcome. Morbidity rate and postoperative stay increased when children with SCD underwent emergency LC. Conclusions: Elective LC should be the gold standard in children with SCD and asymptomatic cholelithiasis to prevent

  14. Resting blood lactate in individuals with sickle cell disease

    PubMed Central

    Petto, Jefferson; de Jesus, Jaqueline Brito; Vasques, Leila Monique Reis; Pinheiro, Renata Leão Silva; Oliveira, Aila Mascarenhas; Spinola, Kelly Aparecida Borges; Silva, Wellington dos Santos

    2011-01-01

    Background The most common hereditary hemoglobin disorder, affecting 20 million individuals worldwide, is sickle cell disease. The vascular obstruction resulting from the sickling of cells in this disease can produce local hypoxemia, pain crises and infarction in several tissues, including the bones, spleen, kidneys and lungs. Objective To determine red blood group genes in a Brazilian populations. Methods The present study is characterized as a case control study, with the aim of identifying the baseline blood lactate concentration in individuals with hemoglobin SS and SC diseases. One-way ANOVA with the Tukey post-test was used to analyze the results and a p-value < 0.05 was considered significant. Calculations were made using the INSTAT statistical program. The graphs were generated using the ORING program. The study sample was composed of 31 men and women residing in the city of Santo Antônio de Jesus, Bahia, Brazil. The individuals were divided into two groups: Group GC of 16 subjects who did not present with any type of structural hemoglobinopathy; and Group GE composed of 15 individuals with ages between 2 and 35 years old, who had the SS and SC genotypes. Sample analyses were performed with 3 mL of blood during fasting. Results The baseline blood lactate concentration of the SS and SC individuals was higher than that of the control group (p<0.001) with means of 4.86 ± 0.95; 3.30 ± 0.33; 1.31 ± 0.08 IU/L for SS, SC and controls, respectively. This corroborates the initial research hypothesis. Conclusion The baseline blood lactate of SS and SC individuals is 3 to 4 times higher than that of healthy subjects, probably due to the fact that these patients have a metabolic deviation to the anaerobic pathway. PMID:23284239

  15. Upper Airway Genioglossal Activity in Children with Sickle Cell Disease

    PubMed Central

    Huang, Jingtao; Pinto, Swaroop J.; Allen, Julian L.; Arens, Raanan; Bowdre, Cheryl Y.; Jawad, Abbas F.; Mason, Thornton B.A.; Ohene-Frempong, Kwaku; Smith-Whitley, Kim; Marcus, Carole L.

    2011-01-01

    Study Objectives: The prevalence of obstructive sleep apnea syndrome (OSAS) in sickle cell disease (SCD) has been reported to be higher than that in the general pediatric population. However, not all subjects with SCD develop OSAS. We hypothesized that SCD patients with OSAS have a blunted neuromuscular response to subatmospheric pressure loads during sleep, making them more likely to develop upper airway collapse. Design: Subjects with SCD with and without OSAS underwent pressure-flow measurements during sleep using intraoral surface electrodes to measure genioglossal EMG (EMGgg). Two techniques were applied to decrease the nasal pressure (PN) to subatmospheric levels, resulting in an activated and relatively hypotonic upper airway. The area under the curve of the inspiratory EMGgg moving time average was analyzed. EMGgg activity was expressed as a percentage of baseline. Changes in EMGgg in response to decrements in nasal pressure were expressed as the slope of the EMGgg vs. nasal pressure (slope of EMGgg-PN). Setting: Sleep laboratory. Participants: 4 children with SCD and OSAS and 18 children with SCD but without OSAS. Results: The major findings of this study were: (1) using the activated but not the hypotonic technique, the slope of EMGgg-PN was more negative in SCD controls than SCD OSAS; (2) the slope of EMGgg-PN was significantly lower using the activated technique compared to the hypotonic technique in SCD controls only; (3) similarly, the critical closing pressure, Pcrit, was more negative using the activated technique than the hypotonic technique in SCD controls but not in SCD OSAS. Conclusion: This preliminary study has shown that children with SCD but without OSAS have more prominent upper airway reflexes than children with SCD and OSAS. Citation: Huang J; Pinto SJ; Allen JL; Arens R; Bowdre CY; Jawad AF; Mason TBA; Ohene-Frempong K; Smith-Whitely K; Marcus CL. Upper airway genioglossal activity in children with sickle cell disease. SLEEP 2011

  16. Genetic variants and cell-free hemoglobin processing in sickle cell nephropathy

    PubMed Central

    Saraf, Santosh L.; Zhang, Xu; Shah, Binal; Kanias, Tamir; Gudehithlu, Krishnamurthy P.; Kittles, Rick; Machado, Roberto F.; Arruda, Jose A.L.; Gladwin, Mark T.; Singh, Ashok K.; Gordeuk, Victor R.

    2015-01-01

    Intravascular hemolysis and hemoglobinuria are associated with sickle cell nephropathy. ApoL1 is involved in cell-free hemoglobin scavenging through association with haptoglobin-related protein. APOL1 G1/G2 variants are the strongest genetic predictors of kidney disease in the general African-American population. A single report associated APOL1 G1/G2 with sickle cell nephropathy. In 221 patients with sickle cell disease at the University of Illinois at Chicago, we replicated the finding of an association of APOL1 G1/G2 with proteinuria, specifically with urine albumin concentration (β=1.1, P=0.003), observed an even stronger association with hemoglobinuria (OR=2.5, P=4.3×10−6), and also replicated the finding of an association with hemoglobinuria in 487 patients from the Walk-Treatment of Pulmonary Hypertension and Sickle cell Disease with Sildenafil Therapy study (OR=2.6, P=0.003). In 25 University of Illinois sickle cell disease patients, concentrations of urine kidney injury molecule-1 correlated with urine cell-free hemoglobin concentrations (r=0.59, P=0.002). Exposing human proximal tubular cells to increasing cell-free hemoglobin led to increasing concentrations of supernatant kidney injury molecule-1 (P=0.01), reduced viability (P=0.01) and induction of HMOX1 and SOD2. HMOX1 rs743811 associated with chronic kidney disease stage (OR=3.0, P=0.0001) in the University of Illinois cohort and end-stage renal disease (OR=10.0, P=0.0003) in the Walk-Treatment of Pulmonary Hypertension and Sickle cell Disease with Sildenafil Therapy cohort. Longer HMOX1 GT-tandem repeats (>25) were associated with lower estimated glomerular filtration rate in the University of Illinois cohort (P=0.01). Our findings point to an association of APOL1 G1/G2 with kidney disease in sickle cell disease, possibly through increased risk of hemoglobinuria, and associations of HMOX1 variants with kidney disease, possibly through reduced protection of the kidney from hemoglobin

  17. A Mixed-Methods Study of Pain-related Quality of Life in Sickle Cell Vaso-Occlusive Crises.

    PubMed

    Lin, Richard J; Evans, Arthur T; Wakeman, Kerri; Unterbrink, Michelle

    2015-01-01

    The quality of care for sickle cell disease patients hospitalized with a vaso-occlusive crisis (VOC) is poor, resulting in staggeringly high healthcare resource utilization. To evaluate in-patient care for VOC, we conducted a mixed-methods study of all adult sickle cell disease patients admitted with a VOC from 2010-2012. We quantitatively assessed the quality of care for all patients, and qualitatively studied a subset of frequently admitted patients. In total, there were 182 admissions from 57 unique patients. The median length of stay was 6 days and the 30-day readmission rate was 34.0%. We identified red blood cell transfusion and patient controlled analgesia use as predictors of increased length of stay. Interestingly, unlike prior findings, younger patients (18-30 years old) did not have increased healthcare resource utilization. Moreover, older age appeared to increase readmission rate and enhance the effect of patient controlled analgesia use on length of stay. Interviews of high healthcare resource utilizers revealed significant deficiencies in pain management and a strong desire for individualized care. This is the first study to examine in-patient predictors of acute healthcare resource utilization in sickle cell disease patients and to correlate them with qualitative perspectives of high healthcare resource utilizers. PMID:26114739

  18. Group A beta-hemolytic streptococcal bacteremia in a patient with sickle cell anemia on penicillin prophylaxis.

    PubMed Central

    LeBlanc, W.; Salah, H.; Khakoo, Y.

    1995-01-01

    Serious invasive bacterial infections, particularly those due to Streptococcus pneumoniae and Hemophilus influenzae, are a well-known complication in patients with sickle cell disease. Early penicillin prophylaxis has been shown to prevent these infections and also to improve survival. This article describes a child with sickle cell anemia who, while on penicillin prophylaxis, developed a group A streptococcal bacteremia, a pathogen not commonly associated with bacteremia in sickle cell disease. PMID:7783241

  19. Usability and Feasibility of an mHealth Intervention for Monitoring and Managing Pain Symptoms in Sickle Cell Disease: The Sickle Cell Disease Mobile Application to Record Symptoms via Technology (SMART).

    PubMed

    Jonassaint, Charles R; Shah, Nirmish; Jonassaint, Jude; De Castro, Laura

    2015-01-01

    Patients with sickle cell disease frequently experience severe pain events that lead to unplanned healthcare utilization. Mobile health tools (mHealth) may help prevent these events by providing remote monitoring and self-management support. This article describes the feasibility of the Sickle cell disease Mobile Application to Record symptoms via Technology (SMART), an mHealth app developed to help sickle cell disease patients monitor and manage their day-to-day symptoms. Fifteen patients recorded their pain intensity using a paper visual analog scale (VAS) and then repeated this measurement using an electronic VAS pain measure on SMART. Patients continued using SMART to record clinical symptoms, pain intensity, location and perceived severity, and treatment strategies for at least 28 days. Patient median age was 29 years (range 16-54); 60.0% were male. There was a high intraclass correlation between pain measurements entered on the paper VAS and SMART on the iPhone and the iPad We found a strong association between patient perceived pain severity and pain intensity entries using SMART (b = 1.71; p < 0.01). Daily compliance with SMART entries was a mean 75.0%, with a high of 85.7% in week 1 and low of 57.9% in week 4; however, one-third (n = 5) of the patients were 100.0% compliant even in week 4. Patients who were over age 35 or used an iPad for the study had the highest compliance rates. This study showed that SMART is a useable and feasible method for monitoring daily pain symptoms among adolescents and adults with sickle cell disease-related pain. PMID:25831427

  20. Beyond the Definitions of the Phenotypic Complications of Sickle Cell Disease: An Update on Management

    PubMed Central

    Ballas, Samir K.; Kesen, Muge R.; Goldberg, Morton F.; Lutty, Gerard A.; Dampier, Carlton; Osunkwo, Ifeyinwa; Wang, Winfred C.; Hoppe, Carolyn; Hagar, Ward; Darbari, Deepika S.; Malik, Punam

    2012-01-01

    The sickle hemoglobin is an abnormal hemoglobin due to point mutation (GAG → GTG) in exon 1 of the β globin gene resulting in the substitution of glutamic acid by valine at position 6 of the β globin polypeptide chain. Although the molecular lesion is a single-point mutation, the sickle gene is pleiotropic in nature causing multiple phenotypic expressions that constitute the various complications of sickle cell disease in general and sickle cell anemia in particular. The disease itself is chronic in nature but many of its complications are acute such as the recurrent acute painful crises (its hallmark), acute chest syndrome, and priapism. These complications vary considerably among patients, in the same patient with time, among countries and with age and sex. To date, there is no well-established consensus among providers on the management of the complications of sickle cell disease due in part to lack of evidence and in part to differences in the experience of providers. It is the aim of this paper to review available current approaches to manage the major complications of sickle cell disease. We hope that this will establish another preliminary forum among providers that may eventually lead the way to better outcomes. PMID:22924029

  1. Clinical significance of circulating blood and endothelial cell microparticles in sickle-cell disease.

    PubMed

    Kasar, Mutlu; Boğa, Can; Yeral, Mahmut; Asma, Suheyl; Kozanoglu, Ilknur; Ozdogu, Hakan

    2014-01-01

    Increased thrombocyte activation leads to a higher likelihood of coagulation in sickle-cell disease. On the other hand, chronic inflammation and endothelial cell activation promote vaso-occlusion. The effect of circulating microparticles derived from erythrocytes, monocytes, thrombocytes, and endothelial cells on the vaso-occlusive process is unclear. This study aims to analyze the relationship between sickle-cell disease and miscellaneous organ complications by defining the circulating microparticles during the steady-state and painful crisis periods in 45 patients with sickle-cell disease. Microparticle analysis was conducted using an eight-parameter flow cytometric method, using CD61 PERCP, CD142PE, CD106 FITC, CD14 APC-H7, CD235a FITC, and Annexin-V APC monoclonal antibodies. Microparticle levels of sickle-cell patients were found to be significantly higher during both painful crisis and steady-state situations compared with the control group (for all, p < 0.001). Among these microparticles, levels of erythrocyte microparticles (eMPs) were significantly higher during crisis than in the steady-state period (eMP steady state vs. painful crisis: 7.59 ± 12.24 vs. 7.59 ± 12.24, respectively; p < 0.01). Microparticles, including eMPs, were not affected by hydroxyurea treatment. Their level did not reflect the high frequency of crisis (>3 times/year). Thrombocyte microparticle levels were found to be higher in patients with nephropathia than in those without (48.05 ± 40.23 vs. 7.67 ± 6.75, respectively; p < 0.049). Circulating microparticles seem to be involved in the pathogenesis of sickle-cell disease. eMPs may help with the management of crisis. Thrombocyte microparticles might predict renal damage induced by vaso-occlusion. PMID:24254379

  2. HLA-haploidentical bone marrow transplantation with posttransplant cyclophosphamide expands the donor pool for patients with sickle cell disease

    PubMed Central

    Fuchs, Ephraim J.; Luznik, Leo; Lanzkron, Sophie M.; Gamper, Christopher J.; Jones, Richard J.; Brodsky, Robert A.

    2012-01-01

    Allogeneic marrow transplantation can cure sickle cell disease; however, HLA-matched donors are difficult to find, and the toxicities of myeloablative conditioning are prohibitive for most adults with this disease. We developed a nonmyeloablative bone marrow transplantation platform using related, including HLA-haploidentical, donors for patients with sickle cell disease. The regimen consisted of antithymocyte globulin, fludarabine, cyclophosphamide, and total body irradiation, and graft-versus-host disease prophylaxis with posttransplantation high-dose cyclophosphamide, mycophenolate mofetil, and tacrolimus or sirolimus. After screening 19 patients, we transplanted 17, 14 from HLA-haploidentical and 3 from HLA-matched related donors. Eleven patients engrafted durably. With a median follow-up of 711 days (minimal follow up 224 days), 10 patients are asymptomatic, and 6 patients are off immunosupression. Only 1 patient developed skin-only acute graft-versus-host disease that resolved without any therapy; no mortality was seen. Nonmyeloablative conditioning with posttransplantation high-dose cyclophosphamide expands the donor pool, making marrow transplantation feasible for most patients with sickle cell disease, and is associated with a low risk of complications, even with haploidentical related donors. Graft failure, 43% in haploidentical pairs, remains a major obstacle but may be acceptable in a fraction of patients if the majority can be cured without serious toxicities. PMID:22955919

  3. Activity and school attendance monitoring system for adolescents with sickle cell disease.

    PubMed

    Venugopalan, Janani; Brown, Clark; Cheng, Chihwen; Stokes, Todd H; Wang, May D

    2012-01-01

    Sickle cell disease, the most common hemoglobin disorder, affects major organ systems with symptoms of pain, anemia and a multitude of chronic conditions. For adolescents, the disease adversely affects school attendance, academic progress and social activity. To effectively study the relationship among school attendance and other factors like demographics and academic performance, studies have relied on self-reporting and school records, all of which have some bias. In this study we design and prototype a system, called SickleSAM (Sickle cell School attendance and Activity Monitoring system), for automatically monitoring school attendance and daily activity of adolescents with sickle cell disease. SickleSAM intends to remove human bias and inaccuracies. The system uses built-in GPS to collect data which will be recorded into a cloud database using Short Messaging Service technology. SickleSAM is developed by Georgia Institute of Technology in conjunction with Children's Healthcare of Atlanta (CHOA). System effectiveness is being evaluated using a trial of 10 adolescents with the disease. PMID:23366422

  4. Activity and School Attendance Monitoring System for Adolescents with Sickle Cell Disease

    PubMed Central

    Venugopalan, Janani; Brown, Clark; Cheng, Chihwen; Stokes, Todd H.; Wang, May D.

    2016-01-01

    Sickle cell disease, the most common hemoglobin disorder, affects major organ systems with symptoms of pain, anemia and a multitude of chronic conditions. For adolescents, the disease adversely affects school attendance, academic progress and social activity. To effectively study the relationship among school attendance and other factors like demographics and academic performance, studies have relied on self-reporting and school records, all of which have some bias. In this study we design and prototype a system, called SickleSAM (Sickle cell School attendance and Activity Monitoring system), for automatically monitoring school attendance and daily activity of adolescents with sickle cell disease. SickleSAM intends to remove human bias and inaccuracies. The system uses built-in GPS to collect data which will be recorded into a cloud database using Short Messaging Service technology. SickleSAM is developed by Georgia Institute of Technology in conjunction with Children's Healthcare of Atlanta (CHOA). System effectiveness is being evaluated using a trial of 10 adolescents with the disease. PMID:23366422

  5. PHARMACOTHERAPY IN SICKLE CELL DISEASE – STATE OF THE ART AND FUTURE PROSPECTS

    PubMed Central

    Hankins, Jane; Aygun, Banu

    2011-01-01

    In the last decade, the care of patients with sickle cell disease (SCD) has undergone important advances with better understanding of disease pathophysiology and improvement in standards of care, especially among paediatric patients. Although many new drugs are currently being investigated and are at different stages of development, the pace of drug discovery and utilization has been slow and suboptimal. Hydroxycarbamide (hydroxyurea) has been investigated and utilized for at least two decades. Hydroxycarbamide’s efficacy has been demonstrated, albeit with different levels of evidence, in paediatric and adult populations, and yet clinician and patient acceptance and use have been far from ideal. In this review we discuss the current usage of hydroxycarbamide and its possible future indications in SCD, as well as the use of new compounds that have very different mechanisms of action, which may prove safe and efficacious when used alone or in combination in patients with SCD. PMID:19222472

  6. Endothelial Activation by Platelets from Sickle Cell Anemia Patients

    PubMed Central

    Proença-Ferreira, Renata; Brugnerotto, Ana Flávia; Garrido, Vanessa Tonin; Dominical, Venina Marcela; Vital, Daiana Morelli; Ribeiro, Marilene de Fátima Reis; dos Santos, Melissa Ercolin; Traina, Fabíola; Olalla-Saad, Sara T.; Costa, Fernando Ferreira; Conran, Nicola

    2014-01-01

    Sickle cell anemia (SCA) is associated with a hypercoagulable state. Increased platelet activation is reported in SCA and SCA platelets may present augmented adhesion to the vascular endothelium, potentially contributing to the vaso-occlusive process. We sought to observe the effects of platelets (PLTs) from healthy control (CON) individuals and SCA individuals on endothelial activation, in vitro. Human umbilical vein endothelial cells (HUVEC) were cultured, in the presence, or not, of washed PLTs from CON or steady-state SCA individuals. Supernatants were reserved for cytokine quantification, and endothelial adhesion molecules (EAM) were analyzed by flow cytometry; gene expressions of ICAM1 and genes of the NF-κB pathway were analyzed by qPCR. SCA PLTs were found to be more inflammatory, displaying increased adhesive properties, an increased production of IL-1β and a tendency towards elevated expressions of P-selectin and activated αIIbβ3. Following culture in the presence of SCA PLTs, HUVEC presented significant augmentations in the expressions of the EAM, ICAM-1 and E-selectin, as well as increased IL-8 production and increased ICAM1 and NFKB1 (encodes p50 subunit of NF-κB) gene expressions. Interestingly, transwell inserts abolished the effects of SCA PLTs on EAM expression. Furthermore, an inhibitor of the NF-κB pathway, BAY 11-7082, also prevented the induction of EAM expression on the HUVEC surface by SCA PLTs. In conclusion, we find further evidence to indicate that platelets circulate in an activated state in sickle cell disease and are capable of stimulating endothelial cell activation. This effect appears to be mediated by direct contact, or even adhesion, between the platelets and endothelial cells and via NFκB-dependent signaling. As such, activated platelets in SCD may contribute to endothelial activation and, therefore, to the vaso-occlusive process. Results provide further evidence to support the use of anti-platelet approaches in association

  7. Endothelial activation by platelets from sickle cell anemia patients.

    PubMed

    Proença-Ferreira, Renata; Brugnerotto, Ana Flávia; Garrido, Vanessa Tonin; Dominical, Venina Marcela; Vital, Daiana Morelli; Ribeiro, Marilene de Fátima Reis; dos Santos, Melissa Ercolin; Traina, Fabíola; Olalla-Saad, Sara T; Costa, Fernando Ferreira; Conran, Nicola

    2014-01-01

    Sickle cell anemia (SCA) is associated with a hypercoagulable state. Increased platelet activation is reported in SCA and SCA platelets may present augmented adhesion to the vascular endothelium, potentially contributing to the vaso-occlusive process. We sought to observe the effects of platelets (PLTs) from healthy control (CON) individuals and SCA individuals on endothelial activation, in vitro. Human umbilical vein endothelial cells (HUVEC) were cultured, in the presence, or not, of washed PLTs from CON or steady-state SCA individuals. Supernatants were reserved for cytokine quantification, and endothelial adhesion molecules (EAM) were analyzed by flow cytometry; gene expressions of ICAM1 and genes of the NF-κB pathway were analyzed by qPCR. SCA PLTs were found to be more inflammatory, displaying increased adhesive properties, an increased production of IL-1β and a tendency towards elevated expressions of P-selectin and activated αIIbβ3. Following culture in the presence of SCA PLTs, HUVEC presented significant augmentations in the expressions of the EAM, ICAM-1 and E-selectin, as well as increased IL-8 production and increased ICAM1 and NFKB1 (encodes p50 subunit of NF-κB) gene expressions. Interestingly, transwell inserts abolished the effects of SCA PLTs on EAM expression. Furthermore, an inhibitor of the NF-κB pathway, BAY 11-7082, also prevented the induction of EAM expression on the HUVEC surface by SCA PLTs. In conclusion, we find further evidence to indicate that platelets circulate in an activated state in sickle cell disease and are capable of stimulating endothelial cell activation. This effect appears to be mediated by direct contact, or even adhesion, between the platelets and endothelial cells and via NFκB-dependent signaling. As such, activated platelets in SCD may contribute to endothelial activation and, therefore, to the vaso-occlusive process. Results provide further evidence to support the use of anti-platelet approaches in association

  8. Kinetics of sickle cell biorheology and implications for painful vasoocclusive crisis

    PubMed Central

    Du, E; Diez-Silva, Monica; Kato, Gregory J.; Dao, Ming; Suresh, Subra

    2015-01-01

    We developed a microfluidics-based model to quantify cell-level processes modulating the pathophysiology of sickle cell disease (SCD). This in vitro model enabled quantitative investigations of the kinetics of cell sickling, unsickling, and cell rheology. We created short-term and long-term hypoxic conditions to simulate normal and retarded transit scenarios in microvasculature. Using blood samples from 25 SCD patients with sickle hemoglobin (HbS) levels varying from 64 to 90.1%, we investigated how cell biophysical alterations during blood flow correlated with hematological parameters, HbS level, and hydroxyurea (HU) therapy. From these measurements, we identified two severe cases of SCD that were also independently validated as severe from a genotype-based disease severity classification. These results point to the potential of this method as a diagnostic indicator of disease severity. In addition, we investigated the role of cell density in the kinetics of cell sickling. We observed an effect of HU therapy mainly in relatively dense cell populations, and that the sickled fraction increased with cell density. These results lend support to the possibility that the microfluidic platform developed here offers a unique and quantitative approach to assess the kinetic, rheological, and hematological factors involved in vasoocclusive events associated with SCD and to develop alternative diagnostic tools for disease severity to supplement other methods. Such insights may also lead to a better understanding of the pathogenic basis and mechanism of drug response in SCD. PMID:25605910

  9. 2-D Model for Normal and Sickle Cell Blood Microcirculation

    NASA Astrophysics Data System (ADS)

    Tekleab, Yonatan; Harris, Wesley

    2011-11-01

    Sickle cell disease (SCD) is a genetic disorder that alters the red blood cell (RBC) structure and function such that hemoglobin (Hb) cannot effectively bind and release oxygen. Previous computational models have been designed to study the microcirculation for insight into blood disorders such as SCD. Our novel 2-D computational model represents a fast, time efficient method developed to analyze flow dynamics, O2 diffusion, and cell deformation in the microcirculation. The model uses a finite difference, Crank-Nicholson scheme to compute the flow and O2 concentration, and the level set computational method to advect the RBC membrane on a staggered grid. Several sets of initial and boundary conditions were tested. Simulation data indicate a few parameters to be significant in the perturbation of the blood flow and O2 concentration profiles. Specifically, the Hill coefficient, arterial O2 partial pressure, O2 partial pressure at 50% Hb saturation, and cell membrane stiffness are significant factors. Results were found to be consistent with those of Le Floch [2010] and Secomb [2006].

  10. Neurological PRESentations in Sickle Cell Patients Are Not Always Stroke: A Review of Posterior Reversible Encephalopathy Syndrome in Sickle Cell Disease.

    PubMed

    Solh, Ziad; Taccone, Michael S; Marin, Samantha; Athale, Uma; Breakey, Vicky R

    2016-06-01

    Acute neurological changes in sickle cell disease (SCD) patients often raise the suspicion for stroke. Posterior reversible encephalopathy syndrome (PRES) can mimic stroke in its clinical presentation. We aimed to (i) review the PRES literature in SCD patients including clinical presentation, risk factors, pathophysiology, and management and (ii) elucidate the distinction between PRES and stroke in SCD. The exact pathophysiology of PRES in SCD remains elusive but is likely multifactorial and related to sickling, ischemia, and chronic anemia predisposing to vasogenic edema. PRES and stroke in SCD are distinguishable conditions. Our review may help elucidate a clinical approach to this distinction. PMID:26871763

  11. Intravenous Lidocaine as an Adjuvant for Pain Associated with Sickle Cell Disease.

    PubMed

    Nguyen, Natalie L; Kome, Anne M; Lowe, Denise K; Coyne, Patrick; Hawks, Kelly G

    2015-01-01

    The objectives of this study were to evaluate the efficacy and safety of adjuvant intravenous (IV) lidocaine in adults with sickle cell disease (SCD). This was a retrospective review. Adults with SCD receiving at least one IV lidocaine infusion from 2004 to 2014 were included. Patient demographics, lidocaine treatment parameters, pain scores, pain medications, and adverse effects were recorded. Eleven patients were identified, yielding 15 IV lidocaine trials. Clinical improvement in pain scores from pre-lidocaine challenge to 24 hours post-lidocaine challenge, defined by ≥ 20% reduction in pain scores, was achieved in 53.3% (8 of 15) of IV lidocaine challenges. Of the 8 clinically successful trials, the mean reduction in morphine dose equivalents (MDE) from 24 hours pre-lidocaine challenge to 24 hours post-lidocaine challenge was 32.2%. Additionally, clinically successful trials had a mean initial and a maximum dose of 1 mg/kg/h (range: 0.5-2.7 mg/kg/h) and 1.3 mg/kg/h (range: 0.5-1.9 mg/kg/h), respectively. On average, these patients underwent 3 dose titrations (range: 1-8) and received lidocaine infusions for 4.4 days (range: 2-8 days). Two patients experienced disorientation and dizziness. The authors conclude that adjuvant IV lidocaine provided pain relief and a mean reduction in MDE during sickle cell pain crisis. These results provide preliminary insight into the use of IV lidocaine for treating pain in patients with SCD, although prospective studies are needed to determine efficacy, dosing, and tolerability of IV lidocaine in this patient population. PMID:26654408

  12. Understanding pain and improving management of sickle cell disease: the PiSCES study.

    PubMed Central

    Smith, Wally R.; Bovbjerg, Viktor E.; Penberthy, Lynne T.; McClish, Donna K.; Levenson, James L.; Roberts, John D.; Gil, Karen; Roseff, Susan D.; Aisiku, Imoigele P.

    2005-01-01

    Until recent decades, sickle cell disease (SCD) was associated with recurrent, disabling pain, organ failure and death in childhood or early adulthood. SCD treatment advances have now decreased pain and prolonged survival, but episodic or chronic pain may still require substantial analgesic use and frequent hospitalization for pain episodes. This pain is poorly characterized and often poorly treated. Adult patients may face barriers to comprehensive SCD care, stigmatization of their care-seeking behavior by providers and lack of family support, forcing them into maladaptive coping strategies. The Pain in Sickle Cell Epidemiology Study (PiSCES) attempts to develop and validate a biopsychosocial model of SCD pain, pain response and healthcare utilization in a large, multisite adult cohort. PiSCES participants complete a baseline survey and six months of daily pain diaries in which they record levels of SCD-related pain and related disability and distress as well as responses to pain (e.g., medication use, hospital visits). PiSCES will advance methods of measuring pain and pain response in SCD by better describing home-managed as well as provider-managed pain. PiSCES will assess the relative contributions of biological (disease-related), psychosocial and environmental (readiness to utilize) factors to overall pain and pain response in SCD, suggesting targets for biobehavioral interventions over time. Importantly, PiSCES will also identify "triggers" of SCD pain episodes and healthcare utilization in the moment of pain, suggesting targets for timely care that mutes pain episodes. Images Figure 1 Figure 2 PMID:15712781

  13. VCL-ALK Renal Cell Carcinoma in Children With Sickle-cell Trait

    PubMed Central

    Smith, Nathaniel E.; Deyrup, Andrea T.; Marinño-Enriquez, Adrian; Fletcher, Jonathan A.; Bridge, Julia A.; Illei, Peter B.; Netto, George J.; Argani, Pedram

    2015-01-01

    We report the third case of a renal cell carcinoma bearing a fusion of the vinculin (VCL) and anaplastic lymphoma kinase (ALK) genes. Like the 2 other reported cases, this neoplasm occurred in a young patient (6 y old) with sickle-cell trait and demonstrated distinctive morphologic features including medullary epicenter, discohesive polygonal or spindle-shaped cells with prominent cytoplasmic vacuoles, and prominent lymphocytic infiltrate. The neoplastic cells demonstrated focal membranous labeling for ALK protein by immunohistochemistry, ALK gene rearrangement by fluorescence in situ hybridization, and a specific VCL-ALK gene fusion by reverse transcriptase polymerase chain reaction. VCL-ALK renal cell carcinoma may represent the eighth sickle-cell nephropathy. PMID:24698962

  14. Pulmonary artery segmentation and quantification in sickle cell associated pulmonary hypertension

    NASA Astrophysics Data System (ADS)

    Linguraru, Marius George; Mukherjee, Nisha; Van Uitert, Robert L.; Summers, Ronald M.; Gladwin, Mark T.; Machado, Roberto F.; Wood, Bradford J.

    2008-03-01

    Pulmonary arterial hypertension is a known complication associated with sickle-cell disease; roughly 75% of sickle cell disease-afflicted patients have pulmonary arterial hypertension at the time of death. This prospective study investigates the potential of image analysis to act as a surrogate for presence and extent of disease, and whether the size change of the pulmonary arteries of sickle cell patients could be linked to sickle-cell associated pulmonary hypertension. Pulmonary CT-Angiography scans from sickle-cell patients were obtained and retrospectively analyzed. Randomly selected pulmonary CT-Angiography studies from patients without sickle-cell anemia were used as negative controls. First, images were smoothed using anisotropic diffusion. Then, a combination of fast marching and geodesic active contours level sets were employed to segment the pulmonary artery. An algorithm based on fast marching methods was used to compute the centerline of the segmented arteries. From the centerline, the diameters at the pulmonary trunk and first branch of the pulmonary arteries were measured automatically. Arterial diameters were normalized to the width of the thoracic cavity, patient weight and body surface. Results show that the pulmonary trunk and first right and left pulmonary arterial branches at the pulmonary trunk junction are significantly larger in diameter with increased blood flow in sickle-cell anemia patients as compared to controls (p values of 0.0278 for trunk and 0.0007 for branches). CT with image processing shows great potential as a surrogate indicator of pulmonary hemodynamics or response to therapy, which could be an important tool for drug discovery and noninvasive clinical surveillance.

  15. Rare but Lethal Hepatopathy-Sickle Cell Intrahepatic Cholestasis and Management Strategies

    PubMed Central

    Malik, Aamir; Merchant, Chandni; Rao, Mana; Fiore, Rosemary P.

    2015-01-01

    Patient: Male, 31 Final Diagnosis: Sickle cell intrahepatic cholestasis Symptoms: Abdominal pain • fever • jaundice Medication: — Clinical Procedure: Exchange transfusion Specialty: Hematology Objective: Rare disease Background: Sickle cell disease can affect the liver by way of the disease process, including sickling in hepatic sinusoids, as well as its treatment, including repeated blood transfusions leading to hemosiderosis and hepatitis. Sickle cell intrahepatic cholestasis (SCIC) is an extreme variant of sickle cell hepatopathy, and is associated with high fatality. Case Report: We present the case of a 31-year-old man with past medical history of sickle cell disease and cholecystectomy who was admitted with uncomplicated vaso occlusive crisis and during the hospital stay developed fever, upper abdominal pain, and jaundice. There was an accelerated rise in total bilirubin to 50 mg/dL, direct bilirubin 38 mg/dL, and Cr 3.0 mg/dL. Hb was 6.4 g/dL, reticulocyte count 16%, ALT 40 IU/L, AST 155 IU/L, ALP 320 IU/L, and LDH 475 IU/L. Hepatitis panel was negative and MRCP showed normal caliber of the common bile duct, with no obstruction. Exchange transfusion of 9 units of packed red blood cells led to great improvement in his condition. Conclusions: SCIC, unlike the other sickle cell hepatopathies, requires urgent and vigorous exchange transfusion. Renal impairment in SCIC has not been well studied but usually is reversible with the hepatic impairment, as in this case. Unresolved renal impairment requires dialysis and is associated with poor outcome. There is limited data on use of hydroxyurea to prevent SCIC, and liver transplant is associated with high mortality. A timely diagnosis of SCIC and appropriate management is life-saving. PMID:26613743

  16. Elevated Pulse Pressure is Associated with Hemolysis, Proteinuria and Chronic Kidney Disease in Sickle Cell Disease

    PubMed Central

    Novelli, Enrico M.; Hildesheim, Mariana; Rosano, Caterina; Vanderpool, Rebecca; Simon, Marc; Kato, Gregory J.; Gladwin, Mark T.

    2014-01-01

    A seeming paradox of sickle cell disease is that patients do not suffer from a high prevalence of systemic hypertension in spite of endothelial dysfunction, chronic inflammation and vasculopathy. However, some patients do develop systolic hypertension and increased pulse pressure, an increasingly recognized major cardiovascular risk factor in other populations. Hence, we hypothesized that pulse pressure, unlike other blood pressure parameters, is independently associated with markers of hemolytic anemia and cardiovascular risk in sickle cell disease. We analyzed the correlates of pulse pressure in patients (n  =  661) enrolled in a multicenter international sickle cell trial. Markers of hemolysis were analyzed as independent variables and as a previously validated hemolytic index that includes multiple variables. We found that pulse pressure, not systolic, diastolic or mean arterial pressure, independently correlated with high reticulocyte count (beta  =  2.37, p  =  0.02) and high hemolytic index (beta  =  1.53, p = 0.002) in patients with homozygous sickle cell disease in two multiple linear regression models which include the markers of hemolysis as independent variables or the hemolytic index, respectively. Pulse pressure was also independently associated with elevated serum creatinine (beta  =  3.21, p  =  0.02), and with proteinuria (beta  =  2.52, p  =  0.04). These results from the largest sickle cell disease cohort to date since the Cooperative Study of Sickle Cell Disease show that pulse pressure is independently associated with hemolysis, proteinuria and chronic kidney disease. We propose that high pulse pressure may be a risk factor for clinical complications of vascular dysfunction in sickle cell disease. Longitudinal and mechanistic studies should be conducted to confirm these hypotheses. PMID:25478953

  17. Increased phorbol 12,13-dibutyrate (PDBu) receptor function associated with sickle red cell membrane ghosts

    SciTech Connect

    Ramachandran, M.; Nair, C.N.; Abraham, E.C.

    1987-05-01

    The biological receptor for tumor-promoting phorbol esters has been identified as the CaS /phospholipid dependent enzyme, protein kinase C. In the red cell, this enzyme is mainly cytosolic but becomes translocated to the membrane if the cellular CaS is allowed to rise. Since cellular CaS in sickle red cells is high, it was reasoned that this enzyme may become more membrane-bound. In fact, the authors noticed a four-fold increase in the binding of TH-PDBu by membrane ghosts isolated from sickle red cells compared to normal red cells (pmoles PDBu bound/mg protein; normal = 0.3 vs sickle cell = 1.4). Attempts to assay the enzyme directly as phospholipid-activated TSP incorporation into the acid-precipitable membrane proteins also indicated a two-fold increase in the radiolabelling of sickle cell membrane ghosts. Autophosphorylation of membrane proteins and analysis of the phosphorylation profile by SDS-PAGE and autoradiography revealed phosphorylation predominantly of bands 3, 4.1 and 4.9 which are known protein kinase C substrates for the red cell enzyme. The increased membrane-associated protein kinase C in sickle red cells may have a bearing on the altered membrane properties reported in this condition.

  18. Hemolysis in sickle cell mice causes pulmonary hypertension due to global impairment in nitric oxide bioavailability

    PubMed Central

    Champion, Hunter C.; Campbell-Lee, Sally A.; Bivalacqua, Trinity J.; Manci, Elizabeth A.; Diwan, Bhalchandra A.; Schimel, Daniel M.; Cochard, Audrey E.; Wang, Xunde; Schechter, Alan N.; Noguchi, Constance T.; Gladwin, Mark T.

    2007-01-01

    Pulmonary hypertension is a highly prevalent complication of sickle cell disease and is a strong risk factor for early mortality. However, the pathophysiologic mechanisms leading to pulmonary vasculopathy remain unclear. Transgenic mice provide opportunities for mechanistic studies of vascular pathophysiology in an animal model. By microcardiac catheterization, all mice expressing exclusively human sickle hemoglobin had pulmonary hypertension, profound pulmonary and systemic endothelial dysfunction, and vascular instability characterized by diminished responses to authentic nitric oxide (NO), NO donors, and endothelium-dependent vasodilators and enhanced responses to vasoconstrictors. However, endothelium-independent vasodilation in sickle mice was normal. Mechanisms of vasculopathy in sickle mice involve global dysregulation of the NO axis: impaired constitutive nitric oxide synthase activity (NOS) with loss of endothelial NOS (eNOS) dimerization, increased NO scavenging by plasma hemoglobin and superoxide, increased arginase activity, and depleted intravascular nitrite reserves. Light microscopy and computed tomography revealed no plexogenic arterial remodeling or thrombi/emboli. Transplanting sickle marrow into wild-type mice conferred the same phenotype, and similar pathobiology was observed in a nonsickle mouse model of acute alloimmune hemolysis. Although the time course is shorter than typical pulmonary hypertension in human sickle cell disease, these results demonstrate that hemolytic anemia is sufficient to produce endothelial dysfunction and global dysregulation of NO. PMID:17158223

  19. Morphine for the Treatment of Pain in Sickle Cell Disease

    PubMed Central

    Ballas, Samir K.

    2015-01-01

    Pain is a hallmark of sickle cell disease (SCD) and its treatment remains challenging. Opioids are the major family of analgesics that are commonly used for treating severe pain. However, these are not always effective and are associated with the liabilities of their own. The pharmacology and multiorgan side effects of opioids are rapidly emerging areas of investigation, but there remains a scarcity of clinical studies. Due to opioid-induced endothelial-, mast cell-, renal mesangial-, and epithelial-cell-specific effects and proinflammatory as well as growth influencing signaling, it is likely that when used for analgesia, opioids may have organ specific pathological effects. Experimental and clinical studies, even though extremely few, suggest that opioids may exacerbate existent organ damage and also stimulate pathologies of their own. Because of the recurrent and/or chronic use of large doses of opioids in SCD, it is critical to evaluate the role and contribution of opioids in many complications of SCD. The aim of this review is to initiate inquiry to develop strategies that may prevent the inadvertent effect of opioids on organ function in SCD, should it occur, without compromising analgesia. PMID:25654130

  20. The CCR5Δ32 Polymorphism in Brazilian Patients with Sickle Cell Disease

    PubMed Central

    Lopes, Mariana Pezzute; Santos, Magnun Nueldo Nunes; Faber, Eliel Wagner; Bezerra, Marcos André Cavalcanti; Hatzlhofer, Betânia Lucena Domingues; Albuquerque, Dulcinéia Martins; Zaccariotto, Tânia Regina; Ribeiro, Daniela Maria; Araújo, Aderson da Silva; Costa, Fernando Ferreira

    2014-01-01

    Background. Previous studies on the role of inflammation in the pathophysiology of sickle cell disease (SCD) suggested that the CCR5Δ32 allele, which is responsible for the production of truncated C-C chemokine receptor type 5 (CCR5), could confer a selective advantage on patients with SCD because it leads to a less efficient Th1 response. We determined the frequency of the CCR5Δ32 polymorphism in 795 Afro-Brazilian SCD patients followed up at the Pernambuco Hematology and Hemotherapy Center, in Northeastern Brazil, divided into a pediatric group (3 months–17 years, n = 483) and an adult group (18–70 years, n = 312). The adult patients were also compared to a healthy control group (blood donors, 18–61 years, n = 247). Methods. The CCR5/CCR5Δ32 polymorphism was determined by allele-specific PCR. Results. No homozygous patient for the CCR5Δ32 allele was detected. The frequency of heterozygotes in the study population (patients and controls) was 5.8%, in the total SCD patients 5.1%, in the children 5.4%, in the adults with SCD 4.8%, and in the adult controls 8.1%. These differences did not reach statistical significance. Conclusions. Our findings failed to demonstrate an important role of the CCR5Δ32 allele in the population sample studied here. PMID:25548430

  1. β-globin gene transfer to human bone marrow for sickle cell disease

    PubMed Central

    Romero, Zulema; Urbinati, Fabrizia; Geiger, Sabine; Cooper, Aaron R.; Wherley, Jennifer; Kaufman, Michael L.; Hollis, Roger P.; Ruiz de Assin, Rafael; Senadheera, Shantha; Sahagian, Arineh; Jin, Xiangyang; Gellis, Alyse; Wang, Xiaoyan; Gjertson, David; DeOliveira, Satiro; Kempert, Pamela; Shupien, Sally; Abdel-Azim, Hisham; Walters, Mark C.; Meiselman, Herbert J.; Wenby, Rosalinda B.; Gruber, Theresa; Marder, Victor; Coates, Thomas D.; Kohn, Donald B.

    2013-01-01

    Autologous hematopoietic stem cell gene therapy is an approach to treating sickle cell disease (SCD) patients that may result in lower morbidity than allogeneic transplantation. We examined the potential of a lentiviral vector (LV) (CCL-βAS3-FB) encoding a human hemoglobin (HBB) gene engineered to impede sickle hemoglobin polymerization (HBBAS3) to transduce human BM CD34+ cells from SCD donors and prevent sickling of red blood cells produced by in vitro differentiation. The CCL-βAS3-FB LV transduced BM CD34+ cells from either healthy or SCD donors at similar levels, based on quantitative PCR and colony-forming unit progenitor analysis. Consistent expression of HBBAS3 mRNA and HbAS3 protein compromised a fourth of the total β-globin–like transcripts and hemoglobin (Hb) tetramers. Upon deoxygenation, a lower percentage of HBBAS3-transduced red blood cells exhibited sickling compared with mock-transduced cells from sickle donors. Transduced BM CD34+ cells were transplanted into immunodeficient mice, and the human cells recovered after 2–3 months were cultured for erythroid differentiation, which showed levels of HBBAS3 mRNA similar to those seen in the CD34+ cells that were directly differentiated in vitro. These results demonstrate that the CCL-βAS3-FB LV is capable of efficient transfer and consistent expression of an effective anti-sickling β-globin gene in human SCD BM CD34+ progenitor cells, improving physiologic parameters of the resulting red blood cells. PMID:23863630

  2. [Phospholipid composition and content of the erythrocyte membrane in carriers of sickle cell trait].

    PubMed

    Sarr, N G; Sall, N D; Toure, M; Diatta, A; Seck, I

    1998-01-01

    By its frequency, but also by its morbidity and mortality, sickle cell disease is a real problem of public health in Senegal. It is an inherited disease of the red blood cell, characterized by vaso-occlusive manifestations in several organs, and chronic hemolytic anemia. Out of this work carried upon subjects presenting sickle cell trait (AS), we especially studied the membrane phospholipids. The aims of this study was to identify and to measure the major phospholipids of the red blood cell membrane (lecithin, lysolecithin, cephalin, lysocephalin and sphingomyelin). We noted a significant decrease of the lecithine rates, associated with significant accumulation of lysophosphatidyl choline implied in hemolysis disorders. We have also noted a significant increase of sphingomyelin which might be involved in the adhesive phenomena of the sickle cells. These preliminary results, allow to consider eventual new therapeutics, at least to reduce the clinical disorders of this painful disease. PMID:9827146

  3. An “acquired” hemoglobin J variant in a sickle cell disease patient

    PubMed Central

    Swedan, Nawwar; Nicol, Kathleen; Moder, Phylis; Kahwash, Samir

    2008-01-01

    We report the case of a rare hemoglobin variant, “Hemoglobin J”, discovered while performing hemoglobin electrophoresis following exchange transfusion of a sickle cell disease patient. It is usual practice in our institution to confirm the hemoglobin S level in sickle cell disease patients after red cell exchange. The patient had received 5 red cell units and the source of this variant was traced back to two of those units. Due to the uncertain clinical impact of this variant, and the lack of specific guidelines, the two donors were deferred from future donations to our institution. PMID:18827863

  4. Management of Sickle Cell Disease: Recommendations from the 2014 Expert Panel Report.

    PubMed

    Yawn, Barbara P; John-Sowah, Joylene

    2015-12-15

    Family physicians are the primary and sometimes only health care resource for families affected by sickle cell disease. Recently published guidelines provide important recommendations for health maintenance, acute care, and monitoring of disease-modifying therapy in persons with this condition. This overview highlights some of the most important clinical activities that can and should be carried out in the community care setting. Children with sickle cell anemia should receive prophylactic penicillin from birth through at least five years of age, and all persons with sickle cell disease require vaccination to prevent invasive pneumococcal disease. Annual screening with transcranial Doppler ultrasonography is recommended for all children with sickle cell disease beginning at two years of age and continuing through adolescence to evaluate the risk of stroke and to initiate transfusion therapy in those at high risk. Vasoocclusive crises require immediate and adequate analgesia appropriate to the level of patient-reported pain. Antibiotics, hospitalization, and incentive spirometry are indicated for those with acute chest syndrome. There is strong evidence to support the promotion and use of hydroxyurea therapy in patients nine months and older who have sickle cell anemia because its use can decrease the frequency of vasoocclusive crises and acute chest syndrome with limited adverse effects. PMID:26760593

  5. A Policy Impact Analysis of the Mandatory NCAA Sickle Cell Trait Screening Program

    PubMed Central

    Tarini, Beth A; Brooks, Margaret Alison; Bundy, David G

    2012-01-01

    Objective To estimate the impact of the mandatory National Collegiate Athletic Association (NCAA) sickle cell trait (SCT) screening policy on the identification of sickle cell carriers and prevention of sudden death. Data Source We used NCAA reports, population-based SCT prevalence estimates, and published risks for exercise-related sudden death attributable to SCT. Study Design We estimated the number of sickle cell carriers identified and the number of potentially preventable sudden deaths with mandatory SCT screening of NCAA Division I athletes. We calculated the number of student-athletes with SCT using a conditional probability based upon SCT prevalence data and self-identified race/ethnicity status. We estimated sudden deaths over 10 years based on published attributable risk of exercise-related sudden death due to SCT. Principal Findings We estimate that over 2,000 NCAA Division I student-athletes with SCT will be identified under this screening policy and that, without intervention, about seven NCAA Division I student-athletes would die suddenly as a complication of SCT over a 10-year period. Conclusion Universal sickle cell screening of NCAA Division I student-athletes will identify a substantial number of sickle cell carriers. A successful intervention could prevent about seven deaths over a decade. PMID:22150647

  6. Pregnancy in Sickle Cell Disease Is a Very High-Risk Situation: An Observational Study.

    PubMed

    Elenga, Narcisse; Adeline, Aurélie; Balcaen, John; Vaz, Tania; Calvez, Mélanie; Terraz, Anne; Accrombessi, Laetitia; Carles, Gabriel

    2016-01-01

    Sickle cell disease is a serious genetic disorder affecting 1/235 births in French Guiana. This study aimed to describe the follow-up of pregnancies among sickle cell disease patients in Cayenne Hospital, in order to highlight the most reported complications. 62 records of pregnancies were analyzed among 44 females with sickle cell disease, between 2007 and 2013. Our results were compared to those of studies conducted in Brazil and Guadeloupe. There were 61 monofetal pregnancies and 2 twin pregnancies, 27 pregnancies among women with SS phenotype, 30 SC pregnancies, and five S-beta pregnancies. The study showed that the follow-up of patients was variable, but no maternal death was found. We also noted that the main maternofetal complications of pregnancies were anemia (36.5%), infection (31.7%), vasoocclusive crisis (20.6%), preeclampsia (17.5%), premature birth (11.1%), intrauterine growth retardation (15.9%), abnormal fetal heart rate (14.3%), and intrauterine fetal death (4.8%). Pregnancies were more at risk among women with SS phenotype. Pregnancy in sickle cell disease patients requires a supported multidisciplinary team including the primary care physician, the obstetrician, and the Integrated Center for Sickle Cell Disease. PMID:27403164

  7. Thalassemia and sickle cell anemia in Swedish immigrants: Genetic diseases have become global

    PubMed Central

    Hemminki, Kari; Li, Xinjun; Försti, Asta; Sundquist, Jan; Sundquist, Kristina

    2015-01-01

    Aims: Some 15% of the Swedish population is born outside Sweden, originating from all continents of the world. Thalassemia and sickle cell anemia constitute the most common inherited recessive disorders globally and they are endemic in areas of Africa and Asia, origins of many immigrants to Sweden. We aimed at investigating the origins of the Swedish sickle cell and thalassemia patients. Methods: Patients were identified using data from the Swedish Hospital Discharge Register since 1987 and from the Outpatient Register since 2001 up to year 2010. Results: A total of 3064 persons were diagnosed with thalassemia. The incidence was highest, 62.9/100,000 for immigrants from Thailand, followed by Iraqis (47.1/100,000); the rate was 0.7/100,000 among those born in Sweden. The total number of sickle cell anemia patients was 584 and the highest rate of 13.0/100,000 was found for Sub-Saharan immigrants. For thalassemia, 363 of the patients were siblings, while for sickle cell anemia, 180 were siblings. Conclusions: The data showed that >90% of sickle cell and thalassemia patients were first- or second-generation immigrants to Sweden and the endemic regions for these were the origins of immigrants with the highest incidence. Global immigration provides global challenges to national health care systems. PMID:27092253

  8. Body mass index and other anthropometric variables in children with sickle cell anaemia

    PubMed Central

    Odetunde, Odutola Israel; Chinawa, Josephat Maduabuchi; Achigbu, Kingsley Ihedioha; Achigbu, Eberechukwu O

    2016-01-01

    Objectives: The objectives of this study were to determine the anthropometric variables of children with sickle cell anaemia and comparing it with those with normal haemoglobin genotype. Methods: A cross sectional study of anthropometric measurements was conducted over a period of six months. Children with sickle cell anaemia in steady state aged between 6-20 years were recruited. Nutritional assessment was done using anthropometrical variables. Data were analyzed using the Statistical Package for Social Sciences program (SPSS), version 20. Results: The sickle cell patients comprised of 20 males and 20 females. There were an equal number of controls with an equal male to female ratio of 1:1. Forty eight percent (19) of the children with sickle cell anemia were underweight (< 5th %ile) and this is statistically significant. χ2=18.02 and p=0.000. When compared with subjects with normal haemoglobin genotype only five of them (13%) were underweight. χ2=10.286 and p=0.001. The controls weighed significantly more than the HbSS patients and also had significantly larger body surface compared to the HbSS population (P<0.05). Conclusion: BMI and other anthropometric variables among children with sickle cell anemia were low when compared with children with normal Haemoglobin genotype. PMID:27182236

  9. The interaction of alpha-thalassemia and homozygous sickle-cell disease.

    PubMed

    Higgs, D R; Aldridge, B E; Lamb, J; Clegg, J B; Weatherall, D J; Hayes, R J; Grandison, Y; Lowrie, Y; Mason, K P; Serjeant, B E; Serjeant, G R

    1982-06-17

    Patients with homozygous sickle-cell disease may be homozygous for alpha-thalassemia 2 (alpha-/alpha-), may be heterozygous for alpha-thalassemia 2 (alpha-/alpha alpha), or may have a normal alpha-globin-gene complement (alpha alpha/alpha alpha). We compared the clinical and hematologic features of 44 patients who had sickle-cell disease and homozygous alpha-thalassemia 2 with those of controls with the two hematologic conditions. The patients with homozygous alpha-thalassemia 2 had significantly higher red-cell counts and levels of hemoglobin and hemoglobin A2, as well as significantly lower hemoglobin F, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration, mean corpuscular volume, reticulocyte counts, irreversibly-sickled cell counts, and serum total bilirubin levels, than those with a normal alpha-globin-gene complement. Heterozygotes (alpha-/alpha alpha) had intermediate values. In the group with homozygous alpha-thalassemia 2, fewer patients had episodes of acute chest syndrome and chronic leg ulceration and more patients had splenomegaly, as compared with patients in other two subgroups. These data confirm previous suggestions that alpha-thalassemia inhibits in vivo sickling in homozygous sickle-cell disease and may be an important genetic determinant of its hematologic severity. PMID:6176865

  10. Sickle-Cell Disease Healthcare Cost in Africa: Experience of the Congo

    PubMed Central

    Ngolet, L. O.; Moyen Engoba, M.; Kocko, Innocent; Elira Dokekias, Alexis; Mombouli, Jean-Vivien; Moyen, Georges Marius

    2016-01-01

    Background. Lack of medical coverage in Africa leads to inappropriate care that has an impact on the mortality rate. In this study, we aimed to evaluate the cost of severe acute sickle-cell related complications in Brazzaville. Methods. A retrospective study was conducted in 2014 in the Paediatric Intensive Care Unit. It concerned 94 homozygote sickle-cell children that developed severe acute sickle-cell disease related complications (average age 69 months). For each patient, we calculated the cost of care complication. Results. The household income was estimated as low (sickle-cell related acute complications was XAF 65,460/USD 115.21. Costs were fluctuating depending on the generating factors of the severe acute complications (p = 0.041). They were higher in case of complications generated by bacterial infections (ranging from XAF 66,765/USD 117.50 to XAF 135,271.50/USD 238.07) and lower in case of complications associated with malaria (ranging from XAF 28,305/49.82 to XAF 64,891.63/USD 114.21). The mortality rate was 17% and was associated with the cost of the case management (p = 0.006). Conclusion. The case management cost of severe acute complications of sickle-cell disease in children is high in Congo. PMID:26949544

  11. Pregnancy in Sickle Cell Disease Is a Very High-Risk Situation: An Observational Study

    PubMed Central

    Elenga, Narcisse; Adeline, Aurélie; Balcaen, John; Vaz, Tania; Calvez, Mélanie; Terraz, Anne; Accrombessi, Laetitia; Carles, Gabriel

    2016-01-01

    Sickle cell disease is a serious genetic disorder affecting 1/235 births in French Guiana. This study aimed to describe the follow-up of pregnancies among sickle cell disease patients in Cayenne Hospital, in order to highlight the most reported complications. 62 records of pregnancies were analyzed among 44 females with sickle cell disease, between 2007 and 2013. Our results were compared to those of studies conducted in Brazil and Guadeloupe. There were 61 monofetal pregnancies and 2 twin pregnancies, 27 pregnancies among women with SS phenotype, 30 SC pregnancies, and five S-beta pregnancies. The study showed that the follow-up of patients was variable, but no maternal death was found. We also noted that the main maternofetal complications of pregnancies were anemia (36.5%), infection (31.7%), vasoocclusive crisis (20.6%), preeclampsia (17.5%), premature birth (11.1%), intrauterine growth retardation (15.9%), abnormal fetal heart rate (14.3%), and intrauterine fetal death (4.8%). Pregnancies were more at risk among women with SS phenotype. Pregnancy in sickle cell disease patients requires a supported multidisciplinary team including the primary care physician, the obstetrician, and the Integrated Center for Sickle Cell Disease. PMID:27403164

  12. EXPLORING PARENT-SIBLING COMMUNICATION IN FAMILIES OF CHILDREN WITH SICKLE CELL DISEASE

    PubMed Central

    Graff, J. Carolyn; Hankins, Jane S.; Hardy, Belinda T.; Hall, Heather R.; Roberts, Ruth J.; Neely-Barnes, Susan L.

    2011-01-01

    Focus group interviews were conducted with parents of children with sickle cell disease to explore parent-sibling communication about sickle cell disease. Communication was influenced by attributes and behaviors of the parent, the child with sickle cell disease, and the sibling; extended family, neighbors, friends, and church members or social networks; and available, accessible resources related to the child’s health, child’s school, and parent employment. Outcomes that influenced and were influenced by factors within and outside the parent-sibling dyad and nuclear family included parent satisfaction, parent roles, family intactness, and status attainment. These findings support previous research with African American families and expand our views of the importance of educating parents, family members, and others about sickle cell disease. The findings suggest a need to explore sibling perception of this communication, parent and sibling perception of the impact of frequent hospitalizations and clinic visits on the sibling and family, and variations within families of children with sickle cell disease. PMID:20384476

  13. Let's Talk about the Needs of African American Children with Sickle Cell Disease: A Recognized "Other Health Impairment."

    ERIC Educational Resources Information Center

    Dooley, Elizabeth A.; Perkins, Nechelle

    Children who inherit sickle cell disease, primarily African Americans and Hispanics, are at risk for serious medical conditions and require special care both at home and in school. Sickle cell disease is recognized as an "Other Health Impairment" and identified students may be eligible for special education services under the Individuals with…

  14. Cardiovascular complications and risk of death in sickle-cell disease.

    PubMed

    Gladwin, Mark T

    2016-06-18

    In sickle-cell disease, a point mutation in the β-globin chain causes haemoglobin to polymerise within erythrocytes during deoxygenation, altering red blood cell rheology and causing haemolysis. Improvements in health infrastructure, preventive care, and clinical treatments have reduced the morbidity and mortality of sickle-cell disease in developed countries. However, as these patients live longer, the chronic effects of sustained haemolytic anaemia and episodic vaso-occlusive events drive the development of end-organ complications. Cardiopulmonary organ dysfunction and chronic kidney injury have a large effect on morbidity and premature mortality, and typically accelerate in the second decade of life. These processes culminate in the development of pulmonary hypertension, left ventricular diastolic heart disease, dysrhythmia, and sudden death. In this Series paper, we review the mechanisms, clinical features, and epidemiology of major cardiovascular complications in patients with sickle-cell disease and discuss how screening and intervention could reduce their incidence. PMID:27353687

  15. Original Research: Diametric effects of hypoxia on pathophysiology of sickle cell disease in a murine model.

    PubMed

    Tan, Fang; Ghosh, Samit; Mosunjac, Mario; Manci, Elizabeth; Ofori-Acquah, Solomon Fiifi

    2016-04-01

    Hypoxia causes erythrocyte sickling in vitro; however, its role in the pathophysiology of sickle cell disease is poorly understood. We report that hypoxia rapidly decreased oxygen saturation in transgenic sickle cell disease mice, but this effect was immediately buffered by a robust ventilatory response. The initial hypoxemia improved steadily throughout the duration of hypoxia without any detectable acute pulmonary adverse effect. Furthermore, the mice suffered acute anemia that ironically was associated with lowering of both plasma hemoglobin and heme. These results were corroborated by increased plasma haptoglobin and hemopexin levels. Markers of ischemic tissue injury increased spatiotemporally following repeated hypoxia exposures. This variation was supported by organ-specific induction of hypoxia-responsive genes. Our results show that hypoxia exerts diametric effects on sickle cell disease by promoting ischemic injury while enhancing the expression of hemolysis scavenger molecules. This phenomenon may help to understand the disparate clinical syndromes associated with hemolysis and vaso-occlusion in sickle cell disease. PMID:27026725

  16. Sickle cell disease pain management and the medical home.

    PubMed

    Raphael, Jean L; Oyeku, Suzette O

    2013-01-01

    Pain is the most common cause for hospitalization and acute morbidity in sickle cell disease (SCD). The consequences of SCD-related pain are substantial, affecting both the individual and the health care system. The emergence of the patient-centered medical home (PCMH) provides new opportunities to align efforts to improve SCD management with innovative and potentially cost-effective models of patient-centered care. The Department of Health and Human Services has designated SCD as a priority area with emphasis on creating PCMHs for affected patients. The question for patients, clinicians, scientists, and policy-makers is how the PCMH can be designed to address pain, the hallmark feature of SCD. This article provides a framework of pain management within the PCMH model. We present an overview of pain and pain management in SCD, gaps in pain management, and current care models used by patients and discuss core PCMH concepts and multidisciplinary team-based PCMH care strategies for SCD pain management. PMID:24319216

  17. Preventive Care Delivery to Young Children With Sickle Cell Disease.

    PubMed

    Bundy, David G; Muschelli, John; Clemens, Gwendolyn D; Strouse, John J; Thompson, Richard E; Casella, James F; Miller, Marlene R

    2016-05-01

    Preventive services can reduce the morbidity of sickle cell disease (SCD) in children but are delivered unreliably. We conducted a retrospective cohort study of children aged 2 to 5 years with SCD, evaluating each child for 14 months and expecting that he/she should receive ≥75% of days covered by antibiotic prophylaxis, ≥1 influenza immunization, and ≥1 transcranial Doppler ultrasound (TCD). We used logistic regression to quantify the relationship between ambulatory generalist and hematologist visits and preventive services delivery. Of 266 children meeting the inclusion criteria, 30% consistently filled prophylactic antibiotic prescriptions. Having ≥2 generalist, non-well child care visits or ≥2 hematologist visits was associated with more reliable antibiotic prophylaxis. Forty-one percent of children received ≥1 influenza immunizations. Children with ≥2 hematologist visits were most likely to be immunized (62% vs. 35% among children without a hematologist visit). Only 25% of children received ≥1 TCD. Children most likely to receive a TCD (42%) were those with ≥2 hematologist visits. One in 20 children received all 3 preventive services. Preventive services delivery to young children with SCD was inconsistent but associated with multiple visits to ambulatory providers. Better connecting children with SCD to hematologists and strengthening preventive care delivery by generalists are both essential. PMID:26950087

  18. Spirituality and Religiosity in Adolescents Living With Sickle Cell Disease.

    PubMed

    Clayton-Jones, Dora; Haglund, Kristin; Belknap, Ruth Ann; Schaefer, Jame; Thompson, Alexis A

    2016-06-01

    This study purports to address paucity in the literature regarding how adolescents with sickle cell disease (SCD) describe and experience spirituality and religiosity (S/R). This was a qualitative descriptive study. Two semi-structured interviews were conducted with nine adolescents (Mage = 16.2 years). Data were analyzed using a template analysis style and a concurrent analysis process of data reduction. Three major themes encompassed the participants' descriptions of the relationships between S/R, health and illness in their lives including S/R as sources for coping, influence of S/R beliefs on health and illness, and sharing S/R with Health Care Providers (HCPs). S/R as coping mechanisms included six threads: interconnecting with God, interconnecting with others, interconnecting with creative arts, scriptural metanarratives, transcendent experiences, and acceptance and finding meaning. Expectations of health providers included two threads: Religiosity is private/personal and sharing spiritual and religious beliefs is risky. S/R are particularly salient for adolescents with SCD. PMID:26792855

  19. Investigations of host defence in patients with sickle cell disease.

    PubMed

    Boghossian, S H; Wright, G; Webster, A D; Segal, A W

    1985-03-01

    Parameters of host defence were investigated in 30 patients with sickle cell disease (SCD). A newly devised perfusion system was used to study the kinetics in whole blood of leucocyte adherence, phagocytosis, killing and solubilization of a mixture of Staph. aureus and Str. pneumoniae, and secretion of lactoferrin. A skin window technique was used to examine the accumulation of leucocytes at inflammatory foci and their subsequent rate of movement through a filter. Serum concentrations of C3, C4, total haemolytic complement and immunoglobulins were also measured. The rate of neutrophil migration into filters was slightly reduced in patients with SCD. The proportion of monocytes that emigrated from the skin windows and their rate of migration were markedly diminished. The adhesion of neutrophils and their ability to kill staphylococci were also reduced, particularly in patients of the haemoglobin (Hb) SS and Hb S-beta-thalassaemia genotypes. Neutrophil function was mostly impaired in patients with the greatest frequency of bacterial infection. The rate of clearance of pneumococci was related to the concentration of type specific immunoglobulin G but not M. Serum concentrations of immunoglobulins and complement were normal. We were unable to define a defect of host defence of sufficient magnitude to explain the susceptibility of these patients to severe infection. PMID:3882140

  20. Erythrocyte deformability and aggregation in homozygous sickle cell disease.

    PubMed

    Vayá, Amparo; Collado, Susana; Dasí, Maria Angeles; Pérez, Maria Luz; Hernandez, Jose Luis; Barragán, Eva

    2014-01-01

    Rheological properties of homozygous sickle cell anaemia (SCA) show marked heterogeneity, which may be explained in part by the concomitance of alpha genotypes or beta haplotypes, along with hydroxurea (HU) treatment. To further clarify this issue, in 11 homozygous patients with SCA in the steady state and in 16 healthy controls, we analysed erythrocyte deformability (ED) in a Rheodyn SSD by means of the Elongation Index (EI) at 12, 30 and 60 Pa, and erythrocyte aggregation at stasis (EA0) and at 3 sec-1 (EA1) in a Myrenne aggregometer along with fibrinogen, biochemical and haematological parameters. When compared with controls, homozygous (SS) patients showed a lower EI at all the shear stresses tested (p < 0.01) and higher EA0 (p < 0.014), but not higher EA1 (p = 0.076). Fibrinogen did not show statistical differences (p = 0.642). In the Spearman's correlation IE60 correlated inversely with Hb S (p < 0.05) and directly with MCV, MCH and Hb F levels (p < 0.01). EA0 correlated inversely with MCV, MCH, Hb F (p < 0.01) and directly with Hb S (p < 0.05). HU treatment improved EI and EA0, but not EA1. This paradoxical behaviour of HU on erythrocyte aggregation merits further research to be clarified. PMID:23603322

  1. Public awareness of sickle cell disease in Bahrain

    PubMed Central

    Al Arrayed, Shaikha; Al Hajeri, Amani

    2010-01-01

    BACKGROUND AND OBJECTIVES: Previous studies that have assessed patient awareness of the management of sickle cell disease (SCD) indicated a lack of awareness of the disease and possibly a need for more public education. Therefore, we measured public awareness in Bahrain of SCD. METHODS: The study was conducted from December 2006 to February 2007. A questionnaire was distributed among 2000 persons selected from among the general public. The participants had face-to-face interviews with either a health professional or a trained interviewer. RESULTS: Most (93%) had heard of SCD and 89% knew that it can be diagnosed by a blood test, but 51% did not know the prevalence of SCD in Bahrain. Eighty-four percent recognized it as a hereditary disorder and 72% said that it can skip generations. Females showed better knowledge than males and married persons seems to know more about SCD than unmarried ones. CONCLUSION: There is a good level of knowledge about SCD among the public, though some of the respondents were confused about the difference between the carrier state of a disease and the disease itself. There is wide acceptance and appreciation of the SCD prevention campaigns being conducted in Bahrain, such as the premarital service and the student screening program. PMID:20622345

  2. Controlling sickle cell disease in Ghana - ethics and options

    PubMed Central

    Kyerewaa Edwin, Ama; Edwin, Frank; Etwire, Victor

    2011-01-01

    Sickle Cell Disease (SCD) is a significant public health burden in Ghana. Recent studies indicate that 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S and/or C gene. As a means of controlling the disease, some authorities have recommended prenatal diagnosis (PND) and selective abortion. In the current era, SCD has a good prognosis and fairly reasonable quality of life. Advances in bone marrow transplantation have shown the disease is curable in selected patients. PND and selective abortion therefore raises a myriad of ethical dilemmas which are considered in this review. In the light of the demonstration of improved prognosis in recent times, PND and selective abortion appears to be applying capital punishment to the unborn child for “crimes” only the parents can be responsible for. In this review, we recommend control of SCD on three levels – preconception genetic testing and strategic reproductive choices, PND and education for carrier parents, and holistic management of persons with SCD. We emphasize the critical importance of self-management, especially self-awareness, in assuring a good quality of life for persons with SCD. We believe such an approach is cost-effective, and consistent with sound ethical principles and good conscience. PMID:22187596

  3. Sickle cell anemia in Brazil: personal, medical and endodontic patterns.

    PubMed

    Ferreira, Shirlene Barbosa Pimentel; Tavares, Warley Luciano Fonseca; Rosa, Marco Aurélio Camargo da; Brito, Luciana Carla Neves de; Vieira, Leda Quércia; Martelli, Hercílio; Ribeiro, Antônio Paulino

    2016-05-20

    Sickle cell anemia (SCA) is the most prevalent genetic disease worldwide. Recurrent vaso-occlusive infarcts predispose SCA patients to infections, which are the primary causes of morbidly and mortality. This study aimed to evaluate the relationship between SCA and endodontic diseases. Personal information, medical data (hematological indices, virologic testing, blood transfusions, medications received, splenectomy) and information on the need for endodontic treatment were obtained from SCA patients who were registered and followed up by the Fundação Hemominas, Minas Gerais, Brazil.These data were compared with the need for root canal treatment in SCA patients. One hundred eight patients comprised the studied population, and the rate of the need for endodontic therapy was 10.2%. Among the medical data, a significant difference was observed for eosinophil (p = 0.045) counts and atypical lymphocyte counts (p = 0.036) when the groups (with and without the need for endodontic treatment) were compared. Statistical relevance was observed when comparing the patients with and without the need for root canal therapy concerned eosinophil counts and atypical lymphocyte counts. The differences in statistical medical data, observed between the groups suggest that both parameters are naturally connected to the stimulation of the immune system that can occur in the presence of root canal infections and that can be harmful to SCA individuals. PMID:27223130

  4. Autologous bone marrow stromal cells are promising candidates for cell therapy approaches to treat bone degeneration in sickle cell disease.

    PubMed

    Lebouvier, Angélique; Poignard, Alexandre; Coquelin-Salsac, Laura; Léotot, Julie; Homma, Yasuhiro; Jullien, Nicolas; Bierling, Philippe; Galactéros, Frédéric; Hernigou, Philippe; Chevallier, Nathalie; Rouard, Hélène

    2015-11-01

    Osteonecrosis of the femoral head is a frequent complication in adult patients with sickle cell disease (SCD). To delay hip arthroplasty, core decompression combined with concentrated total bone marrow (BM) treatment is currently performed in the early stages of the osteonecrosis. Cell therapy efficacy depends on the quantity of implanted BM stromal cells. For this reason, expanded bone marrow stromal cells (BMSCs, also known as bone marrow derived mesenchymal stem cells) can be used to improve osteonecrosis treatment in SCD patients. In this study, we quantitatively and qualitatively evaluated the function of BMSCs isolated from a large number of SCD patients with osteonecrosis (SCD-ON) compared with control groups (patients with osteonecrosis not related to SCD (ON) and normal donors (N)). BM total nuclear cells and colony-forming efficiency values (CFE) were significantly higher in SCD-ON patients than in age and sex-matched controls. The BMSCs from SCD-ON patients were similar to BMSCs from the control groups in terms of their phenotypic and functional properties. SCD-ON patients have a higher frequency of BMSCs that retain their bone regeneration potential. Our findings suggest that BMSCs isolated from SCD-ON patients can be used clinically in cell therapy approaches. This work provides important preclinical data that is necessary for the clinical application of expanded BMSCs in advanced therapies and medical products. PMID:26492634

  5. Adolescents with sickle cell anaemia: Experience in a private tertiary hospital serving a tertiary institution

    PubMed Central

    John-Olabode, Sarah; Awodele, Ibironke; Oni, Omolade

    2015-01-01

    Background: Many adolescents with sickle cell disease (SCD) have adjustment difficulties in the transition period from paediatric care to the adult system because they find themselves in unfamiliar waters where they have to learn to manage themselves. The aim of this study is to evaluate the prevalent crises and morbidities associated with SCD in adolescents in Babcock University Teaching Hospital (BUTH), to also assess the level of knowledge of these adolescents about SCD and to determine their emotional response to the disease. Materials and Methods: This was a retrospective review of case notes of adolescents with sickle cell anaemia that were seen in BUTH, from May 2013 to April 2014. Data extracted from the case notes was entered into a Microsoft (MS) Excel and analysed using descriptive statistics. Results were presented in tables. Results: A total of 50 subjects were seen in the department during this study period. Vaso-occlusive crises in the form of bone pains (93.1%) were the commonest crises encountered. Associated morbidities were malaria 34 (85%), tonsilitis 1 (2.5%), pneumonia 1 (2.5%), leg ulcer 1 (2.5%), azotaemia 1 (2.5%) and subarachnoid haemorrhage 2 (5%). Majority (88%) had adequate knowledge about general health maintenance while knowledge on nutrition and appropriate analgesia use is still inadequate. Eleven (22%) had symptoms of depression, four (8%) had suicidal ideation while one (2%) had a history of attempted suicide. Conclusion: This study emphasizes the importance of psychosocial intervention as part of a comprehensive health management for people with SCD. PMID:26229230

  6. NT-pro brain natriuretic peptide levels and the risk of death in the cooperative study of sickle cell disease.

    PubMed

    Machado, Roberto F; Hildesheim, Mariana; Mendelsohn, Laurel; Remaley, Alan T; Kato, Gregory J; Gladwin, Mark T

    2011-08-01

    Epidemiological studies support a hypothesis that pulmonary hypertension (PH) is a common complication of sickle cell disease (SCD) that is associated with a high risk of death and evolves as a complication of haemolytic anaemia. This fundamental hypothesis has been recently challenged and remains controversial. In order to further test this hypothesis in a large and independent cohort of SCD patients we obtained plasma samples from the Cooperative Study of Sickle Cell Disease (CSSCD) for analysis of a biomarker, N-terminal-pro brain natriuretic peptide (NT-proBNP), which is elevated in the setting of pulmonary arterial and venous hypertension. A NT-pro-BNP value previously identified to predict PH in adults with SCD was used to determine the association between the risk of mortality in 758 CSSCD participants (428 children and 330 adults). An abnormally high NT-proBNP level ≥160ng/l was present in 27·6% of adult SCD patients. High levels were associated with markers of haemolytic anaemia, such as low haemoglobin level (P<0·001), high lactate dehydrogenase (P<0·001), and high total bilirubin levels (P<0·007). A NT-proBNP level ≥160ng/l was an independent predictor of mortality (RR 6·24, 95% CI 2·9-13·3, P<0·0001). These findings provide further support for an association between haemolytic anaemia and cardiovascular complications in this patient population. PMID:21689089

  7. Heart valve surgery in patients with homozygous sickle cell disease: A management strategy

    PubMed Central

    Moutaouekkil, El Mehdi; Najib, Abdelmalek; Ajaja, Rida; Arji, Moha; Slaoui, Anas

    2015-01-01

    Background: Patients with the homozygous sickle cell disease have increased perioperative mortality. Some indications like heart valve surgery, may justify an exchange blood transfusion to reduce the proportion of hemoglobin S (HbS) and complications. Subjects and Methods: We report two female cases aged 20 and 27, of African origin with homozygous sickle cell anemia who underwent heart valve surgery to treat mitral valve regurgitation. This presentation describes the perioperative considerations including anesthesia and postoperative care. Results: A partial exchange blood transfusion decreased HbS levels from respectively, 90% and 84%, 9% to 27% and 34%, and simultaneously treated the anemia. Neither sickling crisis nor acidosis occurred in any patient, and no special postoperative complication occurred. Average hospital stay was 10 days. Currently, the two patients remain alive and free of cardiac symptoms. Discussion: Although the presence of sickle cell disorders is associated with increased risk of sickling and thus vaso-occlusive complications, they should not be taken as a contraindication for heart valve surgery. Nevertheless, monitoring of certain parameters such as venous, arterial oxygen content, pH, and body temperature is mandatory for a better outcome. Furthermore, preoperative exchange transfusion has a positive influence on the outcome of surgery and on the survival of patients undergoing heart valves surgery. Avoiding intraoperative hypoxia, hypothermia, and vaso-constrictive agents, minimizing HbS levels with preoperative exchange transfusion, and ensuring a stress-free environment with the judicious use of sedatives made surgery relatively safe in these cases. PMID:26139741

  8. Exercise limitation, exercise testing and exercise recommendations in sickle cell anemia.

    PubMed

    Connes, Philippe; Machado, Roberto; Hue, Olivier; Reid, Harvey

    2011-01-01

    Sickle cell anemia (SCA or SS homozygous sickle cell disease) is an inherited blood disorder caused by single nucleotide substitution in the β-globin gene that renders their hemoglobin (HbS) much less soluble than normal hemoglobin (HbA) when deoxygenated. The polymerization of HbS upon deoxygenation is the basic pathophysiologic event leading to RBC sickling, hemolysis, vasoocclusion and ultimately to chronic organ damage. The metabolic changes imposed by exercise may initiate sickling and vaso-occlusive episodes. Further, in patients with SCA, exercise limitation may be related to anemia or chronic complications such as pulmonary vascular disease, congestive heart failure and chronic parenchymal lung disease. Few studies have investigated the cardiorespiratory responses of patients with SCA during either symptom-limited maximal exercise test on cyclo-ergometer or during a six minute walk test. Therefore, patients are advised to start exercise slowly and progressively, to maintain adequate hydration during and after exercise, to avoid cold exposure or sudden change in temperature, and to avoid sports associated with mechanical trauma. There are, however, lack of evidence to allow practitioners to prescribe an exercise program for patients with SCA, and individuals are usually encouraged to exercise on a symptom-limited basis. Finally, this review will also highlight the basic principles that are often used for exercise practice and could be used for exercise prescription and rehabilitation in patients with sickle cell anemia. PMID:22214686

  9. Surgical management of osteonecrosis of the femoral head in patients with sickle cell disease

    PubMed Central

    Kamath, Atul F; McGraw, Michael H; Israelite, Craig L

    2015-01-01

    Sickle cell disease is a known risk factor for osteonecrosis of the hip. Necrosis within the femoral head may cause severe pain, functional limitations, and compromise quality of life in this patient population. Early stages of avascular necrosis of the hip may be managed surgically with core decompression with or without autologous bone grafting. Total hip arthroplasty is the mainstay of treatment of advanced stages of the disease in patients who have intractable pain and are medically fit to undergo the procedure. The management of hip pathology in sickle cell disease presents numerous medical and surgical challenges, and the careful perioperative management of patients is mandatory. Although there is an increased risk of medical and surgical complications in patients with sickle cell disease, total hip arthroplasty can provide substantial relief of pain and improvement of function in the appropriately selected patient. PMID:26601059

  10. Sickle cell anaemia 1: background, causes and incidence in the UK.

    PubMed

    De, Diana

    Sickle cell anaemia (SCA) and beta thalassaemia are severe inherited blood disorders. Despite some reports indicating that haemoglobinopathies are the most common serious genetic disorder in the UK, some parts of Europe, Africa and the Caribbean, sickle cell disorders still receive relatively little attention from the public or the healthcare service industry. The aim of this article, the first of two parts, is to provide an overview to the background, causes and incidence of sickle cell disorders in the UK and how an acute crisis state develops. Readers should note that the term 'painful episode' is now used in preference to 'crisis', which suggests catastrophe. The second article will look more closely at the pharmacological treatments for SCA painful episode management. PMID:15924025

  11. The intersection between asthma and acute chest syndrome in children with sickle-cell anaemia.

    PubMed

    DeBaun, Michael R; Strunk, Robert C

    2016-06-18

    Acute chest syndrome is a frequent cause of acute lung disease in children with sickle-cell disease. Asthma is common in children with sickle-cell disease and is associated with increased incidence of vaso-occlusive pain events, acute chest syndrome episodes, and earlier death. Risk factors for asthma exacerbation and an acute chest syndrome episode are similar, and both can present with shortness of breath, chest pain, cough, and wheezing. Despite overlapping risk factors and symptoms, an acute exacerbation of asthma or an episode of acute chest syndrome are two distinct entities that need disease-specific management strategies. Although understanding has increased about asthma as a comorbidity in sickle-cell disease and its effects on morbidity, substantial gaps remain in knowledge about best management. PMID:27353685

  12. Sudden Death in Sickle Cell Anaemia: Report of Three Cases with Brief Review of Literature.

    PubMed

    Niraimathi, Manickam; Kar, Rakhee; Jacob, Sajini Elizabeth; Basu, Debdatta

    2016-06-01

    Vaso-occlusive crisis in sickle cell anaemia is one of the commonest presentations and a leading cause of death. Death can be sudden and unexpected. Herein we present three cases of sickle cell anaemia with sudden death within 3 days of hospitalisation. All the three cases presented with fever and jaundice. Two cases presented consecutively in the same year within a span of 5 months while the other case had presented 2 years prior to these two cases. Infection was the precipitating event in two cases and pregnancy with infection in one. One case in addition had 'right upper quadrant syndrome' and one case had 'acute chest syndrome' (ACS) due to bone marrow fat embolism. Postmortem liver biopsy of all the three cases showed dilated and congested sinusoids with sickled RBCs, kupfer cell prominence with erythrophagocytosis. Lung biopsy of case with ACS showed vessels occluded with bone marrow elements indicating bone marrow fat embolism. PMID:27408408

  13. Surgical management of osteonecrosis of the femoral head in patients with sickle cell disease.

    PubMed

    Kamath, Atul F; McGraw, Michael H; Israelite, Craig L

    2015-11-18

    Sickle cell disease is a known risk factor for osteonecrosis of the hip. Necrosis within the femoral head may cause severe pain, functional limitations, and compromise quality of life in this patient population. Early stages of avascular necrosis of the hip may be managed surgically with core decompression with or without autologous bone grafting. Total hip arthroplasty is the mainstay of treatment of advanced stages of the disease in patients who have intractable pain and are medically fit to undergo the procedure. The management of hip pathology in sickle cell disease presents numerous medical and surgical challenges, and the careful perioperative management of patients is mandatory. Although there is an increased risk of medical and surgical complications in patients with sickle cell disease, total hip arthroplasty can provide substantial relief of pain and improvement of function in the appropriately selected patient. PMID:26601059

  14. Alternative pathway activation in sickle cell disease and beta-thalassemia major.

    PubMed

    deCiutiis, A C; Peterson, C M; Polley, M J; Metakis, L J

    1978-07-01

    Total hemolytic complement activity (CH50), immuno-electrophoretic conversion of Factor B (C3PA), and of C3 were studied in 16 patients with sickle cell disease in a steady state, eight patients in crisis, and ten patients with β-thalassemia major anemia maintained on a constant transfusion regimen. Patients with sickle cell disease in a steady state have moderatley 56 (percent) depressed conversion of Factor B in addition to markedly decreased conversion of C3 in four of ten patients. One of the three sickle cell patients and two of the four thalassemia patients with low C3 conversion levels have died subsequent to the studies. The combination of chronically decreased Factor B conversion in the face of markedly decreased C3 conversion may make these patients occasionally vulnerable to overwhelming infection analagous to the situation seen in postsplenectomy cases. PMID:702579

  15. Hydroxyurea and Growth in Young Children With Sickle Cell Disease

    PubMed Central

    Houston, Patricia E.; Wang, Winfred C.; Iyer, Rathi V.; Goldsmith, Jonathan; Casella, James F.; Reed, Caroline K.; Rogers, Zora R.; Waclawiw, Myron A.; Thompson, Bruce

    2014-01-01

    BACKGROUND: Growth impairment is a known complication of sickle cell disease. Effects of hydroxyurea (HU) on growth in very young children are not known. METHODS: Height, weight, BMI, and head circumference (HC) were compared with World Health Organization (WHO) standards in BABY HUG, a multicenter, randomized, double-blinded, placebo-controlled 2-year clinical trial of HU in 193 children 9 to 18 months of age. Anthropometric data were closely monitored and converted to z scores by using WHO standardized algorithms for descriptive analyses. The treatment and placebo groups were compared longitudinally by using a mixed model analysis. RESULTS: At entry, the z scores of BABY HUG children were higher than WHO norms. After 2 years of HU or placebo treatment, there were no significant differences between the groups, except for the mean HC z scores at study exit (HU: +0.8 versus placebo: +1.0, P = .05). Baseline z scores were the best predictors of z scores at study exit. The absolute neutrophil count, absolute reticulocyte count, and total white blood cell count had significant negative correlations with growth measures. CONCLUSIONS: Both groups had normal or near normal anthropometric measures during the study. The HC z scores at study entry and exit were slightly greater than WHO norms. Higher baseline white blood cell count, absolute reticulocyte count, and absolute neutrophil count were associated with poorer growth. The significance of the slightly lower HC in the treatment group at study exit is not clear. Trends toward normalization of weight and height and effects on HC will be monitored in ongoing BABY HUG follow-up studies. PMID:25157002

  16. Key endothelial cell angiogenic mechanisms are stimulated by the circulating milieu in sickle cell disease and attenuated by hydroxyurea

    PubMed Central

    Lopes, Flavia C. M.; Traina, Fabiola; Almeida, Camila B.; Leonardo, Flavia C.; Franco-Penteado, Carla F.; Garrido, Vanessa T.; Colella, Marina P.; Soares, Raquel; Olalla-Saad, Sara T.; Costa, Fernando F.; Conran, Nicola

    2015-01-01

    As hypoxia-induced inflammatory angiogenesis may contribute to the manifestations of sickle cell disease, we compared the angiogenic molecular profiles of plasma from sickle cell disease individuals and correlated these with in vitro endothelial cell-mediated angiogenesis-stimulating activity and in vivo neovascularization. Bioplex demonstrated that plasma from patients with steady-state sickle cell anemia contained elevated concentrations of pro-angiogenic factors (angiopoietin-1, basic fibroblast growth factor, vascular endothelial growth factor, vascular endothelial growth factor-D and placental growth factor) and displayed potent pro-angiogenic activity, significantly increasing endothelial cell proliferation, migration and capillary-like structure formation. In vivo neovascularization of Matrigel plugs was significantly greater in sickle cell disease mice than in non-sickle cell disease mice, consistent with an up-regulation of angiogenesis in the disease. In plasma from patients with hemoglobin SC disease without proliferative retinopathy, anti-angiogenic endostatin and thrombospondin-2 were significantly elevated. In contrast, plasma from hemoglobin SC individuals with proliferative retinopathy had a pro-angiogenic profile and more significant effects on endothelial cell proliferation and capillary formation than plasma from patients without retinopathy. Hydroxyurea therapy was associated with significant reductions in plasma angiogenic factors and inhibition of endothelial cell-mediated angiogenic mechanisms and neovascularization. Thus, individuals with sickle cell anemia or hemoglobin SC disease with retinopathy present a highly angiogenic circulating milieu, capable of stimulating key endothelial cell-mediated angiogenic mechanisms. Combination anti-angiogenic therapy to prevent the progression of unregulated neovascularization and associated manifestations in sickle cell disease, such as pulmonary hypertension, may be indicated; furthermore, the

  17. Evolving locally appropriate models of care for Indian sickle cell disease

    PubMed Central

    Serjeant, Graham R.

    2016-01-01

    The sickle cell gene in India represents a separate occurrence of the HbS mutations from those in Africa. Sickle cell disease in India occurs against different genetic and environmental backgrounds from those seen in African patients and there is evidence of clinical differences between the populations. Knowledge of the clinical features of African disease was drawn from the Jamaican Cohort Study, based on prospective follow up of all cases of sickle cell disease detected by the screening of 100,000 consecutive newborns in Kingston, Jamaica, and supplemented by observations from the Cooperative Study of Sickle Cell Disease in the US. Defining the principal causes of early morbidity in African sickle cell disease led to successful interventions including pneumococcal prophylaxis, parental education in the early diagnosis of acute splenic sequestration, and the early detection by trans-cranial Doppler of cerebral vessel stenosis predictive of stroke but their success depended on early diagnosis, ideally at birth. Although reducing mortality among patients with African forms of SS disease, the question remains whether these interventions are appropriate or justified in Indian patients. This dilemma is approached by comparing the available data in African and Indian forms of SS disease seeking to highlight the similarities and differences and to identify the deficiencies in knowledge of Indian disease. These deficiencies could be most readily addressed by cohort studies based on newborn screening and since much of the morbidity of African disease occurs in the first five years of life, these need not be a daunting prospect for Indian health care personnel. Newborn screening programmes for sickle cell disease are already underway in India and appropriate protocols and therapeutic trials could quickly answer many of these questions. Without this knowledge, Indian physicians may continue to use possibly unnecessary and expensive models of care. PMID:27377495

  18. Heterogeneous Red Blood Cell Adhesion and Deformability in Sickle Cell Disease

    NASA Astrophysics Data System (ADS)

    Alapan, Yunus; Little, Jane A.; Gurkan, Umut A.

    2014-11-01

    We present a microfluidic approach that allows simultaneous interrogation of RBC properties in physiological flow conditions at a single cell level. With this method, we studied healthy hemoglobin A (HbA) and homozygous sickle hemoglobin (HbS) containing RBCs using whole blood samples from twelve subjects. We report that HbS-containing RBCs are heterogeneous in terms of adhesion and deformability in flow.

  19. Procoagulant activity in patients with sickle cell trait.

    PubMed

    Lawrie, Andrew S; Pizzey, Arnold; Trompeter, Sara; Meiselman, Herbert; Mohandas, Narla; Dumanski, Jan P; Westerman, Maxwell P

    2012-06-01

    Patients with sickle cell trait (STr) are usually considered to be asymptomatic. However, complications, including hypercoagulability, increased risk of venous thromboembolism and the exertional exercise syndrome with rhabdomyolysis and sudden death, have been described. The exact cause of these adverse events is unclear. We have investigated two patients, a set of monozygotic twins with STr, to establish their procoagulant activity status as a potential indicator of thrombotic risk. In-vivo thrombin generation was assessed by the measurement of prothrombin fragment 1 + 2 (F1 + 2) and thrombin-antithrombin complexes (TAT). D-dimer was used as a marker of fibrinolytic activity. The potential to generate thrombin was determined using an ex-vivo thrombin generation test (TGT). The impact of red blood cell (RBC)-derived microparticle shedding and RBC rheology were examined. TAT (>60 μg/l) and F1 + 2 (948 pmol/l) were markedly elevated in patient 2 but within the normal reference range in patient 1 (TAT = 2.5 μg/l; F1 + 2 = 138 pmol/l). D-dimer levels (0.9 mg/l FEU) were similarly elevated in both patients. TGT peak thrombin and endogenous thrombin potential (ETP) were elevated to similar degrees in both patients. Flow cytometric analysis for RBC-derived microparticles showed that both patients had elevated levels on two occasions. RBC deformability, blood viscosity and RBC aggregation were normal and similar in both patients. The results demonstrated different coagulation activity in the patients with one patient in a prothrombotic state, suggesting that there may be two levels of hypercoagulability in STr. Measurement of such differences would allow for separation of high and low-risk patients from serious complications. PMID:22343687

  20. Central nervous system complications of sickle cell disease in children: an overview.

    PubMed

    Wang, Winfred C

    2007-03-01

    Complications involving the central nervous system are among the most devastating manifestations of sickle cell disease. Although overt stroke occurs in 1 in 10 children with Hemoglobin SS, "silent cerebral infarcts" are even more frequent. Both are associated with significant neuropsychological deficits. The end result of these effects on the CNS often is diminished school performance. The use of transcranial Doppler ultrasonography screening allows the identification of patients at high risk for clinical stroke as well as stroke prevention by chronic transfusion. However, definitive prophylaxis and treatment for most CNS complications of sickle cell disease have yet to be determined. PMID:17364568