Prevalence Of Sickle Cell Disease Research Articles

332. Correction of the Sickle Cell Anemia Mutation in Human Induced Pluripotent Stem Cells

The prevalence of sickle cell anemia (SCA) in the US is approximately 70,000 to 100,000 individuals, affecting mostly the African American and Hispanic communities. While improvements in the treatment of SCA has increased both the lifespan and the quality of life of SCA patients, only hematopoietic stem cell transplants offer a lasting cure. Induced pluripotent stem cells (iPSCs) have significantly advanced the potential of developing a personalized, cell and genetic therapy for diseases like SCA by generating patient-specific stem cells in which the underlying disease-causing mutations could be corrected. Differentiation of the corrected cells into engraftable progenitors underlies their utility for autologous replacement or repair of diseased tissues. In these studies, homology directed repair (HDR) was achieved using sequence-specific TALENs in conjunction with HBB targeting vectors to generate seamless, footprint-free gene correction of the HBs exon 1 SCA A-to-T transversion mutation in sickle cell iPSCs (SC-iPSCs). These studies were supported by NIH Program Project Grant (PPG) DK088760.

Prevalence of Sickle Cell Disease among Newborns in St Vincent and the Grenadines: A Retrospective Study.

In the United States of America (USA), sickle cell disease (SCD) occurs in 1:375 African-American births. However, published data from the Caribbean have revealed higher numbers for some Caribbean islands. St Vincent and the Grenadines (SVG) is a multi-island nation in the Caribbean, and there are currently no data on the incidence or prevalence of the disease in this population. The objective of this study was to obtain birth prevalence estimates for SCD in SVG. A retrospective review of haemoglobin electrophoresis test results at the laboratory of the main hospital in SVG for the period of October 1, 2005 to December 31, 2013 was done. Test results and demographic data were extracted to determine the estimated birth prevalence of SCD. The estimated birth prevalence of SCD was found to be 1:172 live births, and 86% of the patients were diagnosed after one year of age. The birth prevalence of SCD in SVG was higher than those in the USA, but was similar to the numbers in other Caribbean populations.

Sickle cell disease in Madhya Pradesh, Central India: A comparison of clinical profile of sickle cell homozygote vs. sickle-beta thalassaemia individuals

Background and objectives: The clinical manifestation in sickle cell disease (SCD) patients varies from one individual to another due to factors like the presence of alpha-thalassaemia mutation, foetal haemoglobin, and β-globin gene haplotype. The present study enumerates the clinical profile of sickle cell anaemia patients from Central India.Methods: Seven hundred seventy-six SCD patients from Jabalpur and surrounding districts (Madhya Pradesh) in central India were registered with the sickle cell clinic of NIRTH, Jabalpur. The present study reveals recorded signs and symptoms of genetically confirmed sickle cell anaemia (404) and sickle beta thalassaemia (92) patients.Results: Majority of the patients were from scheduled caste communities (47.9%) and Gond tribal community (13.8%). Splenomegaly was the most common clinical manifestation observed (71.4%). Overall, 63.5% patients had a history of blood transfusion. The most frequent signs and symptoms observed were Pallor, Icterus, Joint pain, Fever, and Fatigue. Majority of the patients revealed onset of disease prior to attaining the age of 3 years (sickle cell anaemia 44.3% and sickle beta thalassaemia 35.9%). Mean haemoglobin levels among SCA individuals were marginally higher than SBT patients. On the other hand, mean foetal haemoglobin levels among SBT individuals showed the reverse trend. Notably, the present study reports the first incidence of priapism recorded in Central India.Conclusions: The study revealed a high prevalence of SCD among scheduled caste, backward caste, and tribal communities. Dissemination of study findings, screening, pre-marriage counselling, and pre-natal diagnosis are fundamental to preventing or lowering of birth of sickle cell anaemia children in the affected populations.

Comparative Analysis of Iron Homeostasis in Sub-Saharan African Children with Sickle Cell Disease and Their Unaffected Siblings.

Iron is an essential trace element subject to tight regulation to ensure adequate running of biological processes. In sub-Saharan Africa where hemoglobinopathies are common, iron homeostasis is likely to be impaired by these conditions. Here, we assessed and compared key serum proteins associated with iron metabolism between sub-Saharan African children with sickle cell disease (SCD) and their unaffected siblings. Complete blood counts and serum concentrations of four key proteins involved in iron regulation (ferritin, transferrin, sTfR, and hepcidin) were measured for 73 children with SCD and 68 healthy siblings in Benin, West Africa. We found significant differences in concentration of transferrin, sTfR, and ferritin between the two groups. Hepcidin concentrations were found at unusually high concentrations but did not differ among the two groups. We found a significant negative correlation between hepcidin levels and both MCH and MCV in the SCD group and report that sTfR concentrations show a correlation with MCV and MHC in opposite directions in the two groups. These results highlight the unusually high levels of hepcidin in the Beninese population and the patterns of differential iron homeostasis taking place under SCD status. These results lay the foundation for a systematic evaluation of the underlying mechanisms deregulating iron homeostasis in populations with SCD or high prevalence of iron deficiency.

Birth Prevalence of Sickle Cell Trait and Sickle Cell Disease in Shelby County, TN

Accurate quantification of the regional burden of sickle cell disease (SCD) is vital to allocating health-related resources. Shelby County, TN, which includes the city of Memphis and the regional pediatric SCD treatment center at St. Jude Children's Research Hospital, is home to a large population of African Americans. We postulated that the regional birth prevalence of SCD in Shelby County, TN, would differ from national rates. Using data from 2002 to 2012, we estimated the birth prevalence of SCD and sickle cell trait (SCT) in Shelby County and evaluated the distribution of SCD cases by ZIP code of residence with geographic information systems (GIS). The prevalence of SCD in African Americans was 1/287 (95% confidence interval [CI]: 1/323, 1/256) live births, significantly higher than the nationally reported 1/350 -1/500. The prevalence of SCT in African Americans was 1/14.7 (95% CI: 1/15.0, 1/14.3) live births, significantly lower than the nationally reported 1/12. We found that 48% of the SCD cases resided in only six of the 37 residential ZIP codes, and using GIS mapping there were two clusters composed of two and four adjacent urban ZIP codes. SCT cases were also centered predominantly in the same two clusters, but slightly more dispersed. Recent Shelby County birth prevalence estimates differ substantially from national estimates with higher SCD and lower SCT than expected. Preliminary evidence suggests substantial clustering in two small geographic urban areas within Shelby County that may provide target areas for educational and outreach services.

Haemoglobinopathies and β-Thalassaemia among the Tribals Working in the Tea Gardens of Assam, India.

Prevalence of haemoglobinopathies and β-thalassaemia are very high in India but information about its status among the tribals working in the tea gardens of Assam is very less. The present study was carried out to determine the prevalence of haemoglobinopathies and β-thalassaemia among the tribals working in the tea gardens of Assam. A total 1204 samples from the tribals working in tea gardens of Assam were analysed for both Complete Blood Count (CBC) and High Pressure Liquid Chromatography (HPLC) for detection of haemoglobinopathies and β-thalassaemia. This study showed that the prevalence of sickle cell anaemia and β-thalassaemia were very high among this population. Our results indicated a higher prevalence of β-thalassaemia (3.07%) among the Munda ethnic group and higher prevalence of sickle cell anaemia (4.73%) among the Lohar ethnic group. This was the first study to report the presence of HbE among the tribals working in the tea gardens of Assam. Based on the present findings, sickle cell anaemia and β-thalassaemia were major health problem for the tribals working in the tea gardens of Assam. Proper diagnostic facilities for haemoglobinopathy and thalassaemia should be established in these areas, including establishment of haemoglobinopathy and thalassaemia database collection, haematological analysis laboratories, genetic counselling clinics, prenatal diagnosis centres and neonatal screening centres.

Prevalence of sickle cell disease among pregnant women in a tertiary health center in south-south Nigeria

Background: Sickle cell disease (SCD) is relatively prevalent in Nigeria and it is associated with obstetric complications, especially in unsupervised pregnancies. This study was to determine the prevalence of SCD among pregnant women seen in an antenatal clinic in a tertiary health center in South-South Nigeria. Materials and Methods: This was a 10-year retrospective study of all registered pregnant women seen at the antenatal clinic of Braithwaite Memorial Specialist Hospital (BMSH) (2004-2013). Sociodemographic data and hemoglobin (Hb) electrophoresis were obtained using questionnaires and alkaline cellulose acetate electrophoretic machines (Helena), respectively. Data were analyzed using Epi-info version 7.02 by the WHO, Geneva, Switzerland, and CDC, USA. Results: A total of 35,976 pregnant women were seen at the antenatal clinic of BMSH within the study period, out of which 28,815 (80.09%) were Hb AA, 7,109 (19.77%) were Hb AS, and 52 (0.14%) were SS. The average gestational age of booking was 22.1 weeks. More women with tertiary education registered earlier than those with secondary education. Anemia in pregnancy (Hb <11 g/dl) was found in 94.2% of the pregnant women with Hb SS, while 5.8% was above 11 g/dl (P = 0.001). Conclusion: There is a high prevalence of SCD among pregnant women in this region. Late antenatal booking, anemia, and poor education are the predictive markers of poor pregnancy outcome in this region.

Initial outcomes of a comprehensive care model for sickle cell disease among a tribal population in rural western India

Background: Sickle cell disease (SCD) is the most prevalent inherited blood disorder worldwide, and is increasingly recognized as a neglected chronic disease. Several cost-effective interventions have dramatically reduced morbidity and mortality from SCD in developed countries. However, access to care for SCD in India is limited in most rural tribal regions with the highest SCD prevalence . Methods: In 2014, we implemented a comprehensive care model in rural Gujarat, India, with the aim of providing high-quality screening and treatment to increase coverage of proven interventions for sickle cell disease. Components of the intervention include: new-born, antenatal and family screening; outpatient sickle cell clinic; inpatient protocols; chronic disease registry; and health education. We followed a cohort of patients enrolled between February 2014 and October 2014 and compared the severity of disease and coverage of proven interventions at baseline and after one year of follow-up. Results: Of 164 patients diagnosed with sickle cell disease who enrolled in the comprehensive care program, 72 patients (43.9%) had SCD pain crises, 59 (35.9%) were hospitalized, 43 (26.2%) received blood transfusions, and 3 (1.8%) died during follow-up. Compared to baseline, coverage of pneumococcal vaccine (0.6% to 78.5%, p<0.001) and hydroxyurea (4.5% to 50.0%, p=0.002) significantly improved. There was a reduction in the proportion of patients with ≥3 pain crises per year (35.4% to 9.8%, p<0.001) and the proportion of patients with ≥1 hospitalization per year (56.7 go 36.0%, p<0.001) with no significant change in patients with ≥1 blood transfusion in last year (32.9% to 26.2%, p=0.127) . Conclusions: This study demonstrates that implementing a continuity care model for sickle cell disease in rural India is feasible and can improve coverage of evidence-based interventions.

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.

Children with sickle cell disease (SCD) benefit from newborn screening, because life-threatening complications can be prevented by pre-symptomatic diagnosis. In Germany, the immigration of people from endemic countries is steadily growing. Comprehensive data about the epidemiology and prevalence of SCD in Germany are however lacking, and SCD is not included in the national newborn screening program. We provide data on the prevalence of SCD in a population from both urban and rural areas in Southwest Germany. Anonymized dried blood spots from 37,838 unselected newborns were analyzed by allele-specific PCR for the HbS mutation. Samples tested positive were subjected to Sanger sequencing of the entire β-globin coding sequence firstly to validate the screening and secondly to identify compound heterozygous SCD patients with other mutations of the β-globin gene. We identified 83 carriers of the sickle cell trait, three compound heterozygous SCD patients (two with sickle cell-β-thalassemia, one with sickle cell-Hb Tianshui) but no homozygous SCD patients. The novel molecular method and strategy for newborn screening for SCD presented here compares favorably in terms of sensitivity (1.0 for homozygous HbS, 0.996 for heterozygous HbS), specificity (0.996), practicability, and costs with conventional biochemical screening. Our results demonstrate a significant prevalence of SCD of approximately 1:12,000 in an unselected urban and rural population in Southwest Germany. Together with previously published even higher results from exclusively urban populations in Berlin and Hamburg, our data provide the basis for the decision on a newborn screening program for SCD in Germany.

Retrospective Survey of Sickle Cell Disease in Pregnancy in a Niger-Delta Nigerian Tertiary Health Center

Background: The number of sickle cell disease (SCD) females with pregnancy is increasing worldwide today because of better care for sickle cell patients and an increase in life expectancy for these people. This however poses obstetric complications if pregnancy progresses without adequate care and follow-up. This study aimed at determining the prevalence and challenges of SCD among pregnant women seen in ante-natal clinic in a Niger-delta Nigerian tertiary health center.Methodology: This was a-ten-year retrospective study of thirty five thousand, nine hundred and seventy six pregnant women seen at the antenatal clinic of Braithwaite Memorial Specialist Hospital (BMSH) (2003-2013). Biomedical data and hemoglobin (Hb) electrophoresis were obtained using hypothesis generation questionnaires and conventional hemoglobin electrophoretic machines respectively. Data analysis was obtained using SPSS version 16.Result: A total of 35,976 pregnant women registered in the ante-natal clinic within the study period out of which 28,815 (80.09%) were Hb AA, 7,109 (19.77%) were Hb AS, and 52 were Hb SS (prevalence of 1.4 per 1000 pregnant women). The average booking gestational ages of 22.6 and 29.1 weeks were recorded for SCD and non-SCD participants respectively. The higher level of education (Post-secondary and post-graduate) recorded was relatively higher among the SCD (60%) compared to non-SCD (58.05%) population, although this was not statistically significant (Table 1). Hemoglobin concentration below 11 g/dl were recorded by 39.4 % and 80.8% of non-SCD and SCD participants respectively (P=0.001) (Table 2a). The study population recorded 20.8% as Hb AS (Table 2b).Conclusion: The prevalence of sickle cell disease in pregnancy is on the increase in this region. Anemia, late ante-natal booking, and poor educational empowerment rank among the greatest challenges confronting management of sickle cell disease in pregnancy in Nigeria. Therefore, awareness creation and national policies that will scale up the care of sickle cell disease in pregnancy should be topmost priorities in improving their life expectancies in Nigeria.Table 1Levels of Education: SCD Pregnant women compared to Non-SCD PregnantLevels of EducationFrequency n (%)Total n (%)p-valueNon HbSSHbSSPrimary (1-6)71 (0.2)- (0)71 (0.2)<0.05JSS (1-3)810 (2.4)1 (2)811 (2.4)>0.05SS (1-3)13,308 (39.4)19 (38)13,417 (39.7)>0.05Post-Secondary (Tertiary)19,419 (57.5)28 (56)19,447 (57.2)>0.05Post-graduate (Masters, Ph.D.)188 (0.55)2 (4%)190 (0.5)<0.05Total33,756 (100)50 (100)33,806 (100)Table 2(a) Pattern of Hemoglobin Concentration in HbSS and Non-HbSS Pregnant womenHb Conc. (g/dl)Frequency n (%)Total n (%)p-valueNon-HbSSHbSS<1113,276 (39.2)42 (80.8)13,318 (39.3)<0.05≥1120,554 (60.8)10 (19.2)20,564 (60.7)<0.05Total33,830 (100)52 (100.0)33,882 (100)Chi-square: 188.78, p-value = 0.001Note: Hb Concentration <11.0 g/dl is termed "Anemia in pregnancy" [1],[2]. 34,020 of the registered women had their Hemoglobin concentration documented.

Prevalence of HbS Gene in Marzouk Region of Southern Libya

This study assesses the homozygous and heterozygous status of sickle cell disease (SCD) and evaluates the relationship between consanguinity and the occurrence of HbS gene in families living in Marzouk region of Libya. The study revealed higher frequency (53.34%) of sickle cell trait (HbAS) in Marzouk region; whereas the prevalence of sickle cell anemia (HbSS) was nearly 10%. Out of 210 subjects, two cases of sickle cell with HbC (0.95%) were noticed. High frequency of consanguinity (72%) found in this study suggests that interrelation marriages are very common in Marzouk region and these are one of the major factors for high rate of sickle cell trait. In addition, large family size (average of 6-10 children/family) plays an important role in increasing the frequency of HbS. Surprisingly the carriers of HbAS showed some clinical complications of HbSS like jaundice and joints splenomegaly. Interestingly, one case of aplastic crisis was also detected in HbAS carriers. In the long run these findings will help in deciphering the mechanisms of the disease processes within SCD and management of the disease by implementing effective control measures and prevention strategies (like, genetic counseling, pre-marital screening etc.) along with care and rehabilitation of the affected population.

The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area).

Sickle cell disease is among hereditary diseases with evidence that early diagnoses and treatment improves the clinical outcome. So far sickle cell disease has not been included in the German newborn screening program despite immigration from countries with populations at risk. To determine the birth prevalence we tested 17,018 newborns. High pressure liquid chromatography and subsequent molecular-genetic testing were used for the detection and confirmation of hemoglobin variants. The frequency of sickle cell disease-consistent genotypes was one in 2,385 newborns. Duffy-blood group typing showed evidence that affected children were likely of Sub-Saharan ancestry. An inclusion of sickle cell disease into the German newborn screening seems reasonable.

Febrile Convulsion among Hospitalized Children Aged Six Months to Five Years and Its Association With Haemoglobin Electrophoretic Pattern.

Febrile convulsion and sickle cell disease are common in tropical countries and both are associated with significant morbidity and mortality. Worldwide, Nigeria has the highest prevalence of sickle cell disease. However, there is a dearth of knowledge on the haemoglobin electrophoresis in patients with febrile convulsions. This was a hospital based, descriptive, cross-sectional study of the relationship between haemoglobin genotype and febrile convulsion at the University of Ilorin Teaching Hospital over a period of 12 months. A self-designed pretested questionnaire was administered on the subjects, and necessary examinations and investigations were conducted. Of a total of 1675 children admitted into the emergency paediatric unit during the study period, children aged 6 months-5 years that presented with febrile convulsions were 167(10%). Of this, 1,212 were aged 6 months-5 years. Thus, the age specific, hospital-based prevalence was 13.8%. The M:F was 1.1:1. Their Haemoglobin genotype distribution was AA 131(78.4%), AS 23(13.8%), AC 6(3.6%), SS 6(3.6%), and 1(0.6%) SC. The mean age of the sickle cell disease patients was higher at 46.0±13.5 months compared to 29.2±15.4 months in the non-sickle cell disease patients (p=0.005). The mean packed cell volume in subjects with sickle cell anaemia was 8.8±1.5%; the only case of haemoglobin SC had packed cell volume of 20%, while the non-sickle cell disease patients had a normal PCV. Malaria was present in 80.4% of them. Febrile convulsion remains a common cause of hospitalisation. It is uncommon in haemoglobin SS where severe anaemia is always an accompanying derangement. The packed cell volume is nearly normal in children with normal haemoglobin genotype.

High rate of sickle cell anaemia in Sub-Saharan Africa underlines the need to screen all children with severe anaemia for the disease.

Neonatal screening for sickle cell anaemia is not common practice in the Democratic Republic of Congo, and we determined the prevalence in children with unknown electrophoresis of haemoglobin and anaemia. A cross-sectional study was conducted in four hospitals in the country's capital Kinshasa. We screened 807 patients with anaemia (Hb < 6 g/dL) for sickle cell disease. The overall mean age at presentation was 42.7 months ± 29.7 months, and most patients (76.3%) were less than five years of age, with a peak incidence at seven to 36 months of age (45%). The median age at the first transfusion was 29 months (range 4-159 months). Of these 807 children, 36 (4.5%) were homozygous for haemoglobin S disease and 45 (5.6%) were heterozygotes. The proportion of patients with homozygous sickle cell anaemia was slightly higher in children with a medical history of hand foot syndrome, in children who had received more than three transfusions and in children up to 36 months of age at their first transfusion. The high prevalence of sickle cell anaemia in children in Sub-Saharan Africa underlines the need for neonatal screening or, if that is not possible, screening of all children with severe anaemia to identify patients with the disease and provide early management.

Chronic kidney disease is common in sickle cell disease: a cross-sectional study in the Tema Metropolis, Ghana.

BackgroundRenal involvement in sickle cell disease (SCD) contributes significantly to morbidity and mortality. The aim of this study was to determine the prevalence of chronic kidney disease (CKD) amongst SCD patients, and how basic clinical variables differ across haemoglobin genotypes.MethodsA hospital-based cross-sectional study conducted from December 2013 to May 2014 at the Sickle cell clinic of the Tema General Hospital. One hundred and ninety-four (194) participants with SCD, receiving medical care at the outpatient sickle cell clinic were enrolled onto the study. A structured questionnaire was administered to obtain information on demography, clinical history, blood pressure and anthropometry. Blood and urine samples were taken for serum creatinine and proteinuria determination respectively. The estimated GFR (eGFR) was calculated using the CKD-EPI and Schwartz equations. CKD was defined according to the Kidney Disease Improving Global Outcomes (KDIGO) guidelines. Analysis was performed using GraphPad prism and P <0.05 was considered statistically significant.ResultsCKD was present in 39.2 % of participants. Using KDIGO guidelines, 40.8 % of the HbSS participants had stage 1 CKD and none had stage 2 CKD. In addition, 30.8 % of the HbSC participants had stage 1 CKD and 3.8 % had stage 2 CKD. There was a trend of increasing age across CKD stages and stage 2 CKD participants were oldest (P < 0.001).ConclusionResults from the current study suggest that CKD is common amongst SCD patients and prevalence and intensity increases with age. Proteinuria and CKD was more common in HbSS genotype than in HbSC genotype.Electronic supplementary materialThe online version of this article (doi:10.1186/s12882-015-0072-y) contains supplementary material, which is available to authorized users.

Identification of the hot-spot areas for sickle cell disease using cord blood screening at a district hospital: an Indian perspective.

Sickle cell disease (SCD), a genetic disorder often reported late, can be identified early in life, and hot-spot areas may be identified to conduct genetic epidemiology studies. This study was undertaken to estimate prevalence and to identify hot spot area for SCD in Kalahandi district, by screening cord blood of neonatesdelivered at the district hospital as first-hand information. Kalahandi District Hospital selected for the study is predominated by tribal population with higher prevalence of SCD as compared to other parts of Odisha. Cord blood screening of SCD was carried out on 761 newborn samples of which 13 were screened to be homozygous for SCD. Information on area of parent's residence was also collected. Madanpur Rampur area was found to be with the highest prevalence of SCD (10.52%) and the gene distribution did not follow Hardy-Weinberg Equation indicating un-natural selection. The approach of conducting neonatal screening in a district hospital for identification of SCD is feasible and appropriate for prioritizing area for the implementation of large-scale screening and planning control measures thereof.

Beta-globin gene haplotypes among cameroonians and review of the global distribution: is there a case for a single sickle mutation origin in Africa?

Studies of hemoglobin S haplotypes in African subpopulations have potential implications for patient care and our understanding of genetic factors that have shaped the prevalence of sickle cell disease (SCD). We evaluated HBB gene cluster haplotypes in SCD patients from Cameroon, and reviewed the literature for a global distribution. We reviewed medical records to obtain pertinent socio-demographic and clinical features for 610 Cameroonian SCD patients, including hemoglobin electrophoresis and full blood counts. RFLP-PCR was used to determine the HBB gene haplotype on 1082 chromosomes. A systematic review of the current literature was undertaken to catalogue HBB haplotype frequencies in SCD populations around the world. Benin (74%; n = 799) and Cameroon (19%; n = 207) were the most prevalent haplotypes observed among Cameroonian patients. There was no significant association between HBB haplotypes and clinical life events, anthropometric measures, hematological parameters, or fetal hemoglobin (HbF) levels. The literature review of the global haplotype distributions was consistent with known historical migrations of the people of Africa. Previously reported data from Sudan showed a distinctly unusual pattern; all four classical haplotypes were reported, with an exceptionally high proportion of the Senegal, Cameroon, and atypical haplotypes. We did not observe any significant associations between HBB haplotype and SCD disease course in this cohort. Taken together, the data from Cameroon and from the wider literature suggest that a careful reassessment of African HBB haplotypes may shed further light on the evolutionary dynamics of the sickle allele, which could suggest a single origin of the sickle mutation.

Decompensated Liver Cirrhosis Secondary to Iron Overload in Non-Blood Transfusion Dependent Patients with Sickle Cell Disease (SCD): Report of Two Cases

The prevalence of sickle cell disease (SCD) is high in the southwest region of Saudi Arabia. Liver involvement in patients with SCD represents a challenging medical problem in clinical practice and carrying a high morbidity and mortality rates. We reported two cases of young patients (19 year male and 22 year female), both of them were known to be non-blood transfusion SCD patients. They have had almost the same clinical presentation with advanced decompensated liver cirrhosis and severe progressive jaundice. Early screening of SCD patients for iron overload, beside commencement of iron chelating agents can prevent the long-term sequel of iron overload.

Sickle cell disease in Sub-Saharan Africa: Molecular mechanisms underlying episodic crises, current and emerging therapeutic strategies in treatment

Sickle cell disease (SCD) is a haematological disease that affects multiple organs, thus eliciting episodes of chronic pain, acute anaemia and infection, due to a single nucleotide mutation in the β-globin gene, which results in the substitution of a glutamic acid residue in place of valine on the β-globin chain of the resultant haemoglobin protein molecule, the sickle haemoglobin (HbS). SCD is a major cause of morbidity and mortality characterized by episodes of vaso-occlusivecrises, pain syndromes and end organ dysfunctions. Its global prevalence is highest in Sub-Saharan Africa with 75% of global births living in this region, of which Nigeria has the highest number of SCD patients with about 100.000 births each year. The burden of SCD in the sub-Saharan region of Africa is enormous. Emotional, financial and total healthcare costs are monumental. An understanding of the mechanism underlying the vaso-occlusive crises, pain syndromes, inflammatoryconditions and other sequelae of SCD appears to be essential in providing more rational treatments. The present review discuses the prevalence of SCD in Africa, molecular mechanisms underlying SCD episodic crises including vaso-occlusive syndrome, anaemia and infection. Current available treatments modalities in Sub-Saharan Africa and possible new treatment methods that cure SCD are re-examined in light of these mechanisms.

High Hemoglobin F in a Saudi Child Presenting with Pancytopenia

Saudi Arabia has a high prevalence of sickle cell disease with a wide spectrum of clinical presentations, and sickle cell disease patients are divided according to the clinical phenotypes. Sickle cell disease patients who have higher expression of hemoglobin F level are reported to experience milder disease since high hemoglobin F is thought to ameliorate the disease manifestations. However, the effects are not consistent since hemoglobin F is not equally distributed among erythrocytes. Multiple factors can help determine the level of fetal hemoglobin in adults. Here we report a case of a Saudi patient who presented with her first crisis at the age of 6 years.