Prevalence Of Sickle Cell Disease Research Articles

Newborn Screening for Sickle Cell Disease in the Caribbean: An Update of the Present Situation and of the Disease Prevalence.

The region surrounding the Caribbean Sea is predominantly composed of island nations for its Eastern part and the American continental coast on its Western part. A large proportion of the population, particularly in the Caribbean islands, traces its ancestry to Africa as a consequence of the Atlantic slave trade during the XVI–XVIII centuries. As a result, sickle cell disease has been largely introduced in the region. Some Caribbean countries and/or territories, such as Jamaica and the French territories, initiated newborn screening (NBS) programs for sickle cell disease more than 20 years ago. They have demonstrated the major beneficial impact on mortality and morbidity resulting from early childhood care. However, similar programs have not been implemented in much of the region. This paper presents an update of the existing NBS programs and the prevalence of sickle cell disease in the Caribbean. It demonstrates the impact of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia (CAREST) on the extension of these programs. The presented data illustrate the importance of advocacy in convincing policy makers of the feasibility and benefit of NBS for sickle cell disease when coupled to early care.

Sickle Cell Anemia in Cuba: Prevention and Management, 1982-2018.

Sickle cell anemia is the most common hereditary disease in Cuba. On average, 1 in 33 Cubans is a carrier of this severe hemolytic anemia that can cause early death. In early 1980, its incidence in Cuba was calculated at 1 in 1600 births. In 1982, the Cuban public health system established the Sickle Cell Anemia Prevention Program, which aims to prevent the disease through identification of carrier couples and antenatal diagnosis of fetuses with disease-associated genotypes. In 1982-2018, hemoglobin genotypes were tested in 4,847,239 pregnant women. Of these, 168,865 (3.5%) were found to be carriers or to have sickle cell disease. During the same period, 8180 at-risk couples were identified, of whom 79.2% agreed to an antenatal study for detection of the sickle cell gene in the fetus. Among fetuses diagnosed, 20.1% had the SS genotype, the most clinically severe; 76.2% of the associated couples decided to interrupt the pregnancy. This program has resulted in a 3-fold reduction in prevalence of sickle cell disease in Cuba, a 10-fold reduction in the number of infants born with it each year, and a 16-year average increase in life expectancy of sickle cell disease patients of both sexes. Key contributors to these results have been universal screening of pregnant women in primary care, installation of diagnostic laboratories in every province, genetic counseling for couples, testing of fetal DNA (allowing couples to decide whether to continue the pregnancy if the fetus tests positive for the disease) and guaranteed multidisciplinary clinical care for patients. The Cuban experience shows that a middle-income country can mitigate the impact of a genetic disease through a universal preventive program based in primary care, which also pays particular attention to afflicted patients. KEYWORDS Sickle cell anemia, sickle cell disease, sickle cell disorders, hemolytic anemia, sickle cell trait, sickle cell hemoglobin C disease, HbS disease, prevention, antenatal screening, preventive health services, Cuba.

Epidemiology of Sickle Cell Disease in Gulf Cooperation Council Countries: A Systematic Review

Objectives: We aimed to systemically review the published studies to assess the epidemiological profile of sickle cell disease (SCD) in the Gulf Cooperation Council (GCC) countries. Methods: We systemically searched MEDLINE/PubMed (National Library of Medicine), CINAHL, and EMBASE through December 2018 and selected relevant studies reporting the epidemiology of SCD among GCC population. Data of the incidence, prevalence, risk factors, mortality rate, and complications of SCD were extracted. We assessed the quality of the retrieved studies according to the Newcastle-Ottawa Quality Assessment Scale developed for cohort studies and the modified version designed for cross-sectional studies. Results: Fifty-one studies were included in our systematic review. The prevalence rates of SCD varied from 0.2 to 21%. The most frequent risk factor was consanguineous marriage. The most common SCD-associated complications reported were acute chest syndrome, hemolytic crisis, pain crisis, infections, vaso-occlusive crisis, and splenic complications. The incidence rates of hemolytic crisis ranged from 4.46% to 100%. The highest incidence rate of pain crisis was reported in Alsultan et al., 2012 (96%). The splenic complications were in the form of acute splenic sequestration and splenomegaly or hypersplenism. The rates of acute chest syndrome ranged from 1% up to 100%. Various types of infections, such as upper and lower respiratory tract infections, gastroenteritis, septicemia, osteomyelitis, or septic arthritis, were reported. The highest incidence rate of infection was 1989 (63.80%). The mortality rate ranged between 0.4% and 28.7%. The incidence rate of the vaso-occlusive crisis ranged between 21% and 98%; the highest incidence rate was of more than 95%. Conclusions: We recommend additional promotion in preventive measures in the high-risk provinces and intensify the community perception to implement a rate reduction for these disorders. Funding Statement: This project was funded under contract no. 019-009 from the Grant Management Department, King Fahad Medical City. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. Declaration of Interests: The authors have declared that no competing interests exist. Ethics Approval Statement: The authors declare they followed the PRISMA checklist when reporting this manuscript and all steps were done in strict compliance with Cochrane handbook of systematic reviews for interventions.

Establishing a national sickle cell disease program in the Republic of Congo

The Republic of Congo (RC) ([Figure 1][1]) has one of highest prevalence rates of sickle cell trait (SCT) in the world. The prevalence of sickle cell disease (SCD) is estimated to be at least 1.5% with an expected nationwide SCD patient population of 70 000. RC has no established national newborn

Building a sickle cell disease screening program in the Republic of Uganda: the Uganda Sickle Surveillance Study (US3) with 3 years of follow-up screening results

The prevalence of sickle cell disease (SCD) in the Republic of Uganda is higher than in the United States, but there are no accurate countrywide data and no newborn screening program has been established. The Early Infant Diagnosis (EID) program is well established to analyze dried blood spots (DBSs

Application of a public health strategy to large-scale point-of-care screening for sickle cell disease in rural sub-Saharan Africa

Sickle cell disease (SCD) accounts for up to 15% of mortality in children younger than age 5 years in developing countries that have a high prevalence of SCD. Diagnosis of SCD can improve survival, but high costs and complex operational requirements of standard genetic or protein separation

Geospatial Mapping of Sickle Cell Disease in Northwest Tanzania: The Tanzania Sickle Surveillance Study (TS3)

Tanzania ranks third in Africa for the estimated number of annual births with sickle cell disease, but these estimates are based on sparse data from small studies reported over the past 50 years. A recently completed surveillance study from Uganda documented substantial variation in the prevalence of sickle cell trait and disease across the country. Tanzania lacks a national newborn screening program, and no contemporary multi-regional screening of infants has been undertaken. We designed and conducted a prospective study to determine the prevalence of sickle cell trait and disease by region and district in northwest Tanzania, where the prevalence of sickle cell is thought to be highest. The study used existing public health infrastructure while building local capacity for accurate diagnosis of sickle cell disease. Secondary objectives included characterization of hemoglobin variants and exploration of associations between sickle cell trait, sickle cell disease, malaria, and HIV.The Tanzania Sickle Surveillance Study (TS3) is a prospective cross-sectional study of HIV-exposed infants born in 9 regions across the Lake Zone of northwest Tanzania. In Tanzania, the HIV early infant diagnosis (EID) program collects dried blood spots (DBS) from all children born to HIV-infected mothers. DBS are transported to a central laboratory for prompt detection of HIV vertical transmission. In northwest Tanzania, the DBS are transported to Bugando Medical Centre, a teaching and consultancy hospital in Mwanza, where they are tested for HIV and then stored on-site, and thus available for further testing. Isoelectric focusing (IEF) equipment was donated to Bugando Medical Centre along with reagents and supplies. Two laboratory staff were trained by a board certified hematologist, and then attended a two day seminar by the IEF manufacturer. One pediatrician completed a 2-month observership at Cincinnati Children's Hospital. All DBS samples were tested by IEF using appropriate controls. Completed gels were scored independently by two Tanzanian staff members as normal, disease, trait, variant, or uninterpretable. DBS samples scored as disease or variant were repeated for confirmation and preserved for later genotyping. Regular Skype calls were convened with US-based collaborators to improve quality and interpretation. HIV test results were obtained from the local EID program.Between February 2017 and May 2018, 232 IEF gels were completed by the local staff. After children >24 months of age were excluded to obtain a more accurate newborn prevalence, the median age of children tested was 52 days (IQR 41-93 days), and a total of 17,278 unique DBS samples were scored. The quality of laboratory testing was extremely high with only 20 samples scored as uninterpretable and 54 with missing results, and the primary analysis was performed on the 17,204 remaining samples. The overall prevalence of sickle cell trait and disease in the entire cohort was 20.3% and 1.2%, respectively, with a 0.1% prevalence of hemoglobin variants. This corresponds to an allelic frequency of 0.114 for the sickle gene mutation and demonstrates perfect Hardy-Weinberg equilibrium. No HbC or other common beta-globin variants were identified. Geospatial mapping revealed some variation across regions, with sickle trait ranging from 16.6% to 22.5% and disease ranging from 0.5% to 1.5%. Analysis of individual districts with >100 samples revealed wider geographic variability, with sickle trait ranging from 15.2% to 27.8% and disease ranging from 0.0% to 4.3%. Co-morbidity between HIV and sickle cell disease was analyzed to compare it with the effect on mortality previously observed in Uganda. The prevalence of sickle cell disease was the same among HIV-infected and HIV-negative children (1.2%), suggesting no difference in mortality.The prevalence of sickle cell trait and disease among infants born in northwest Tanzania is very high, exceeding 20% trait and 1.2% disease. All regions in the Lake Zone are affected possibly due to lack of immigration to the area and similar environmental exposures. Targeted newborn screening can be started in high prevalence districts, using existing public health infrastructure with minimal start-up cost and training. Future work will evaluate the correlation between historical malaria prevalence and sickle cell prevalence, and identify hemoglobin variants. [Display omitted] DisclosuresWare:Addmedica: Research Funding; Novartis: Membership on an entity's Board of Directors or advisory committees; Bristol Myers Squibb: Research Funding; Agios: Other: advisory board; Global Blood Therapeutics: Other: advisory board; Biomedomics: Research Funding; Nova Laboratories: Consultancy.

Disparities in Foundation and Federal Support and Development of New Therapeutics for Sickle Cell Disease and Cystic Fibrosis

Abstract BACKGROUND: Sickle cell disease (SCD) and cystic fibrosis (CF) are rare inherited disorders of similar severity. Disparities in funding between these two diseases have been long recognized and likely contribute to limited access to care and treatments for sickle cell disease. Private investment in therapeutics for these and other orphan diseases has greatly increased in the past ten years. We hypothesized that these increased private expenditures may help correct disparities in research publications, clinical trials, and FDA approval of new therapies. METHODS: We compared funding and research output for SCD and CF between 2008-2012 versus 2013-2017. We estimated disease-specific funding using NIH Research Portfolio Online Reporting Tools and the Form 990 financial reports for foundation expenditures of multiple organizations dedicated to each disease from 2008-2016. We developed a comprehensive search strategy to identify relevant publications in PubMed and new postings of US based interventional clinical trials by disease. In addition, we reviewed FDA drug approvals and new indications for each disease from 2008-2017. RESULTS: Average annual NIH funding per affected individual was 3.4-fold greater for CF than SCD from 2008 to 2016. Between 2008-2012, private foundation funding was 161-fold greater for CF than SCD. Between 2013-2016, private funding was 971-fold greater for CF than SCD. There were 1.8 times as many PubMed publications for CF compared to SSD. There was no significant difference in PubMed publications between the two time periods. There was a significant increase in interventional clinical trials for SCD between 2013-2017, with the largest increase coming from university/philanthropic funded trials. However, CF has significantly increased FDA drug approvals of both novel compounds and novel indications. CONCLUSIONS: Although the US prevalence of SCD is three times greater than CF, the amount of federal and private foundation research funding is magnitudes greater for CF. Foundation funding for CF benefited significantly from revenue based on the successful development of targeted therapies. However, despite the significant funding difference, the number of clinical trials for SSD are comparable to CF and have increased over the past few years. Research productivity as measured by articles indexed in PubMed, and new drug approvals remain substantially higher for cystic fibrosis despite greatly increased industry investment in orphan diseases. Disclosures Strouse: Global Blood Therapeutics: Consultancy.

Burden and Risk of Neurological and Cognitive Impairment in Pediatric Sickle Cell Anemia in Uganda (BRAIN SAFE): Final Results of the Cross-Sectional Analysis

Introduction: Despite high prevalence of Sickle Cell Anemia (SCA) in sub-Saharan Africa, systematic evaluation of structural and functional impact of pediatric sickle cerebrovasculopathy has been limited. In a cross-sectional study of children with HbSS, ages 1-12 years, receiving care at the Mulago Hospital SCD clinic in Kampala, we hypothesized there would be high prevalence of multi-modal brain injury and stroke risk, as defined by 4 different adverse outcomes. Here we present our completed study results.Methods: Patients were randomly selected from the electronic clinic roster. None was taking hydroxyurea. Exclusion criteria: acute illness, Hb <6.0gm/dl, transfusion within the prior 3 months or participation in an unrelated clinical study. Adverse outcome was defined as abnormalities in ≥1 of 4 modalities examined. Stroke examination: were performed by pediatric NIH Stroke Scale (NIHSS). Psychometric testing: Age-appropriate Mullen Scales of Early Learning or Kaufman Assessment Battery, 2nd edition for Children-II, for ages 1-4 or 5-12, respectively, performed by skilled testers using validated versions in English or a predominant local language. Abnormal results defined as >2 Z scores below age-specific established community norms. Transcranial doppler ultrasounds (TCDs): Non-imaging TCDs (SonaraTek) were performed by two study trained staff (excellent inter-operator reliability >0.85); read by a U.S.-certified co-investigator. Brain magnetic resonance imaging (MRI), including arterial imaging (MRA): Subset of 81 (30.1%) of subjects (n=81), enriched for 1 or more testing abnormality, underwent non-contrast MRI/MRA imaging by a single 1.5T scanner. Two radiologists performed clinical reads. Statistical methods: ANOVA, multivariate, chi square, logistic regression.Results: Of 287 patients screened, all 265 eligible subjects were enrolled. Mean age was 5.5 SD 2.9 years, 52.3% male (Table 1). Mean Hb was 7.3 SD1.0 gm/dl. Each outcome was normally distributed.Stroke exam: Results: see below. Neurocognitive results: Overall results: see below. Poor testing: 2 of 100 ages 1-4 (2.0%) and 25 of 144 ages 5-12 (17.4%). TCDs: 13 of 251 (5.2%) were unread due to inadequate bone windows (12), poorly cooperative subject (1). Overall results: see below. MRI/MRAs: Overall results: see below. Abnormalities ranged from multiple small infarcts to multiple, bilateral infarcts and multi-vessel arterial stenoses. Among those with abnormal MRI/MRA, 13 (29.5%) also had a non-normal TCD. Summary data: In all, 58 (21.9%) subjects had ³1 abnormal outcomes. Among the 81 subjects with MR imaging, 28 (34.6%) had ³2 abnormal outcomes: 18 had 2; 9 had 3; 1 had all 4. Analyses: Abnormal neurocognitive results were highly dependent (6.8-fold) on age (<0.001) (Table 2). Abnormal MR imaging was associated had a 3-fold with abnormal neurocognitive results (0.034), but not significant when adjusted for age.Conclusions: These data demonstrate early, frequent neurovascular pathology for each outcome tested. Abnormal neurocognitive test results significantly increased with age or non-normal TCD. Our findings provide a baseline for longitudinal assessment and incentive for intervention. Enhanced research capacity was gained for junior faculty, trainees and staff, in areas of the conduct of brain research and focus on pediatric SCD, TCD performance and neuro-epidemiology.Funding: 1R21HD089791 (PIs: Idro, Green) [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

Clinical Testing of Hemechip in Nigeria for Point-of-Care Screening of Sickle Cell Disease

In sub-Saharan Africa, nearly a quarter of a million babies are born with sickle cell disease (SCD) each year. An estimated 50-90% of these babies die before age 5 due to lack of early diagnosis and timely treatment. The World Health Organization estimates that more than 70% of SCD related deaths are preventable with simple, cost-effective interventions, such as early screening followed by affordable and widely available treatment regimens. Here, we present the early clinical testing results of HemeChip, which is the first single-use cartridge-based microchip electrophoresis hemoglobin screening platform. HemeChip was developed by Hemex Health, Inc., based on technology licensed from Case Western Reserve University. HemeChip allows affordable, objective, quantitative screening of hemoglobin variants at the point-of-care. HemeChip works with a drop of finger or heel-prick blood and separates hemoglobin variants on a piece of cellulose acetate paper that is housed in an injection molded plastic cartridge with a precisely controlled electric field.HemeChip works with a portable reader to produce easily understandable, objective, and quantitative descriptions of the hemoglobin types and percentages present in a blood sample. The HemeChip reader guides the user step-by-step through the test procedure with animated on-screen instructions to minimize user errors. Hemoglobin identification and quantification is automatically done with a custom software on the reader. HemeChip reader records and analyzes the hemoglobin electrophoresis real-time, and it can wirelessly transmit the test results to a central electronic database, if needed.HemeChip prototype units have been clinically tested and benchmarked against the clinical standard technique in Kano, Nigeria, where the SCD prevalence is the highest in the world. We tested a total of 248 subjects (228 children aged 6 weeks to 5 years in Kano, Nigeria; and 20 adults in Cleveland, Ohio, United States) under institutional review board approval, using both HemeChip and the clinical standard laboratory method, High Performance Liquid Chromatography (HPLC, VARIANT™ II, Bio-Rad Laboratories, Inc., Hercules, California). HemeChip tests were done on eHealth Africa campus in Kano, Nigeria, by trained local healthcare workers using blood samples collected at the nearby Aminu Kano Teaching Hospital. Clinical standard (HPLC) testing was done independently by the International Foundation Against Infectious Disease in Nigeria (IFAIN, Abuja, Nigeria) for the blood samples obtained in Kano or by the University Hospitals Cleveland Medical Center Clinical Laboratories (Cleveland, Ohio) for the blood samples obtained in Cleveland.Test results included the following: homozygous SCD (HbSS), heterozygous sickle hemoglobin C disease (HbSC), heterozygous sickle trait (HbAS), and normal (HbAA). HemeChip identified the subjects with HbSS with 100% accuracy, HbSC with 100% accuracy, HbAS with 98.2% accuracy, and HbAA with 96.4% accuracy in comparison to HPLC (Table 1). Overall accuracy of HemeChip was 97.2% in comparison to HPLC for the subjects tested. HemeChip sensitivity was 100% for all hemoglobin variants tested (Table 2), and specificity was 96.4% for HbSS vs. HbAA, 98.2% for HbSS vs. HbAS, 100% for HbSC vs. HbAS, and 100% for HbAS vs. HbAA. Bland-Altman analysis indicated strong agreement between the quantitative HPLC and HemeChip results for hemoglobin percentages, with a mean bias of -3.2%.HemeChip enables, for the first time, accurate, cost-effective identification and quantification of hemoglobin variants at the point-of-need. HemeChip has been developed based on a versatile, mass-producible microchip electrophoresis platform technology that may address other unmet needs in biology and medicine that require rapid, decentralized hemoglobin or protein analysis, identification, and/or quantification. [Display omitted] DisclosuresThota:Hemex Health Inc: Employment. Little:PCORI: Research Funding; Hemex: Patents & Royalties: Patent, no honoraria; NHLBI: Research Funding; Doris Duke Charitable Foundations: Research Funding.

Prevalence of Sickle Cell Disease Among Anaemic Children Attending Mbeya Referral Hospital in Southern Tanzania

Sickle cell disease (SCD) is a common genetic haematological disorder present in most countries in sub-Saharan Africa. In Tanzania, between 50% and 75% of the children born with SCD die before reaching the age of 5 years. The objective of this study was to determine the prevalence of SCD in children under 5 years of age attending Mbeya Referral Hospital between March and April 2014.We conducted a hospital-based, cross-sectional, descriptive study in which 50 children under 5 were included at Mbeya Referral Hospital in southern Tanzania. Full blood counts were conducted using SYSMEX KX 21 and SYSMEX XT 2000i haematology analysers. The presence of haemoglobin S was determined using the sodium metabisulfite sickling test on blood samples with haemoglobin levels less than 10 g/dl.Blood samples from 50 infants and children under 5 were tested for sickle cell anaemia. Of these, 9 (18%) participants were found to be sickling test positive, 5 (55.6%) of whom were male and 4 (44.4%) were female. Almost half (n=4, 44.4%) of the SCD-positive children were between 25 and 36 months old, while the rest were between 13 and 24 months (n=2, 22.2%), 37 and 48 months (n=1, 11.1%), and 49 and 60 months (n=2, 22.2%) of age.At our facility, among children under 5 with serum haemoglobin levels <10 g/dl, the prevalence of SCD was 18%. This might pose a substantial public health challenge in the region. More and larger studies are needed to help map out the sickle cell burden throughout the country to guide policy and management strategies.

Immune Status and Red Cell alloimmunization among SCD Patients in Côte d’Ivoire

Sickle cell disease is the most popular genetic disease in the world. In Côte d’Ivoire, the SCD prevalence is 12%. As such, SCD is a public health problem. Few studies are really investigating the relative levels of Th1, Th2 and Th17 types in black Africans and in the occurring of alloimmunization. This works attempts to identify the cytokine pattern produced by these patients during the course of the disease as Th1 cytokines, Th2 cytokines and Th17 and the relationship with alloimmunization. Patients and Methods: This is a prospective study followed at the National blood Transfusion Center in Abidjan, Côte d’Ivoire. Cytokines were measured by using Bio Legend’s LEGEND plexTM Human Inflammation Panel assays. We used Grifols DG gel® system to perform the immune hematology tests. Results: We recruit 50 patients with a diagnosis of sickle cell disease (SCD). Of these, only 31 have benefited from the research of irregular agglutinins (62%), comprising 14males (45.16%) and 17 females (54.84 %). The overall alloimmunization prevalence of 16.12%. The prevalence of alloimmunization was significantly greater in males than in females (60%). According to alloimmunization, we note an increased levels of IL-10 in non alloimmunized patients with SCD, when compared with alloimmunized and the levels of IL-4 was higher in alloimmunized patients compared to non alloimmunized. Lower IFN-γ levels were detected in non alloimmunized and alloimmunized SCD patients. Concerning IL-17, there was a small increase in patients without alloantibodies compared to those with. However no significant differences were noted in the 2 groups. Conclusion: The impact of biomarkers in the occurrence of alloimmunization is a constant preoccupation of researchers. Due to lack of financial aspect, small number of patients was enrolled. Even, we cannot draw any definitive conclusion; however our study brings data regarding the functioning of the immune system in SCD giving valuable insight.

Prevalence of sickle cell disease in tribal peoples of Valsad district region in Gujarat,India

Background: High prevalence of sickle gene has been demonstrated in various tribal communities of Gujarat including Bhils and Dhodias of Panchmahal, Dublas, Naikas, Koli, Dhanka, Gamit, Vasava, Bariya, Varli, Vaghari, Kukna, Halpati, Chaudhari etc. The present study was conducted with an objective to document the prevalence of sickle cell diseasein Valsad district of Gujarat state. Methodology: The study is conducted as a retrospective survey in GMERS Medical College and hospital, Valsad between January 2015 to December 2016 were screened for sickle cell anemia by sickling test (with freshly prepared sodium metabisulphite). Those found positive for sickling test, were further analyzed by HPLC (high-performance liquid chromatography) to confirm their status as either sickle cell trait or sickle cell disease. Results: Out of 1186 cases number of male cases were 277 (23.35%) and females were 909 (76.64%) cases. The gender distribution of male to female cases is 1:3. 88.7% cases were sickle cell trait, 9.02% cases were sickle cell disease, 1.68% cases were sickle beta thalassemia, 0.25% cases were B Thalassemia Minor and 0.33% cases were B Thalassemia Major. In the present study, among the 1186 cases, 397(33.47%) were from Patel (Dhodia) community, 97 (8.17%) were from varli community, 57(4.8%) were from Halpati community and 51(4.3%) were from Dhodi community followed by other backward community. Conclusion: It was concluded that Dhodias, Varli, Halpati and Dhodi were the most common community of sickle cell disorders in tribal peoples of Valsad district.Among the Sickling test positive cases, Sickle cell trait and sickle cell disease was the most common variant.

Condições socioeconômicas e saúde das famílias portadoras de anemia falciforme

A anemia falciforme é doença hereditária caracterizada pela alteração dos glóbulos vermelhos do sangue, tornando-os parecidos com uma meia lua. A pesquisa teve como objetivo mostrar as condiçoes socioeconômicas das famílias com doença falciforme moradoras na comunidade quilombola Negros do Riacho, no município de Currais Novos, Rio Grande do Norte. Adotou-se uma abordagem qualiquantitativa. Os dados foram coletados através de entrevistas semiestruturadas realizadas no domicílio dos participantes, após a assinatura do TCLE. Os resultados mostraram que a proporção de mulheres é maior. Aqueles que se situam entre os 26 e os 35 anos somam 38,8%. A maioria é casada, possui o ensino fundamental e ganha até um salário mínimo. A água consumida não recebe qualquer tratamento.É oriunda exclusivamente de poço. Por não existir coleta pública de lixo, o depósito é feito a céu aberto e apenas 5,6% incinerado. Apenas 11,2% dos doentes já fizeram ou fazem algum tipo de tratamento. Conclui-se que há relação entre as condições socioeconômicas e a incidência e prevalência da anemia falciforme. Sugerem-se apoio financeiro e logístico para o desenvolvimento de estudos/diagnósticos nessa comunidade, alertando as autoridades para que intervenham de forma contínua e sistemática na prevenção, tratamento e controle de anemia falciforme.

Prevalence of Sickle Cell Disease in Pregnant Women and Neonates in Africa

This review article has been conducted in order to evaluate the way of managing sickle cell diseases in African countries. Reviews of four researches have been reviewed. All of them mentioned that sickle cell diseases lead to complications during pregnancy, parturition and perinatal period. The study of Sickle Cell Disease in Pregnancy Maternal and Fetal Outcome in Port Harcourt in Nigeria this study has done in 4500 mothers booked during prenatal care and the results indicated that 0.2% of them had SCD. The study indicated that where malaria is endemic maternal complications due to SCD increases like 60% had cesarean section, 20% postpartum hemorrhage, preeclampsia and eclampsia. The argument comes by recommending the government to do early SCD detection. The study conducted in Uganda on sickle cell trait and disease focusing on early detection of SCD in infants mentioned that prevalence is high in Sub-Saharan Africa; the argument is that there is no specific studied universe. The study on Sickle Cell Disease in Pregnancy-Trend and Pregnancy Outcomes at a Tertiary Hospital in Tanzania published in 2013 done by Projestine S. Muganyizi, Hussein Kidanto at Muhimbiri National Hospital. The purpose of the study was to evaluate and compare outcomes of SCD deliveries and non SCD deliveries. All the women delivered from 1999 to 2011 in MNH was 157,473 and 149 were SCD deliveries in which 17 deaths occurred, thus made an incidence maternal death of 1141 per 100,000 deliveries against 439 per 100,000 deliveries for non SCD deliveries. This is due to perinatal complications. If managed at district hospital level this high mortality from SCD is reduced. The study done in great lake region from 2004 to 2006 Evaluated a sample of 1825 neonates sampled and found that 97(5.32%) had SCD. based on this review; we recommend health education during prenatal period. Governments also are recommended to support early detection of SCD to manage complications. Proposed model can help in each steps of managing this silent killer.

Newborn Screening for Sickle Cell Disease (SCD) in Awka South East Nigeria

Background: Sickle cell Diseases (SCD) is a genetic disorder. It is the most common genetic disorder affecting black race worldwide. It carries a high mortality and morbidity when not promptly and properly managed. Early detection is key to improving the quality of life of people living with sickle cell disease especially in childhood. It has resulted in reduction in mortality rate of SCD to <1% in developed countries through new-born screening but this reduction is yet to be achieved in developing countries. Objective: To share the experience of new-born screening of SCD at COOUTH Awka. To determine the prevalence of Sickle cell disease among neonates in Anambra State. Methodology: A retrospective study of screening for SCD in new-borns carried out at Chukwuemeka Odumegwu Ojukwu University Teaching Hospital (COOUTH) Awka from 1st September 2013 to 27th October 2017. This was done using isoelectric focusing machine. Results: A total of 4961 children were screened, 2410 were males, while 2551 were females. 75% (3733) of the neonates had their hemoglobin genotypes as AA, while 0.3% (16) were Hb SS genotype. Prevalence of Hb SS genotype amongst newborns was 0.32%. Conclusion: This study found the prevalence of sickle cell disease in newborns to be 0.32%. Newborn screening using Isoelectric focusing machine is very valuable for early diagnosis and prompt management of SCD. There is therefore need for increased awareness of this in Anambra State.

Prevalence of Sickle Cell Disease Among Anaemic Children Attending Mbeya Referral Hospital in Southern Tanzania

Background:Sickle cell disease (SCD) is a common genetic haematological disorder present in most countries in sub-Saharan Africa. In Tanzania, between 50% and 75% of the children born with SCD die before reaching the age of 5 years. The objective of this study was to determine the prevalence of SCD in children under 5 years of age attending Mbeya Referral Hospital between March and April 2014.Methods:We conducted a hospital-based, cross-sectional, descriptive study in which 50 children under 5 were included at Mbeya Referral Hospital in southern Tanzania. Full blood counts were conducted using SYSMEX KX 21 and SYSMEX XT 2000i haematology analysers. The presence of haemoglobin S was determined using the sodium metabisulfite sickling test on blood samples with haemoglobin levels less than 10 g/dl.Results:Blood samples from 50 infants and children under 5 were tested for sickle cell anaemia. Of these, 9 (18%) participants were found to be sickling test positive, 5 (55.6%) of whom were male and 4 (44.4%) were female. Almost half (n=4, 44.4%) of the SCD-positive children were between 25 and 36 months old, while the rest were between 13 and 24 months (n=2, 22.2%), 37 and 48 months (n=1, 11.1%), and 49 and 60 months (n=2, 22.2%) of age.Conclusion:At our facility, among children under 5 with serum haemoglobin levels <10 g/dl, the prevalence of SCD was 18%. This might pose a substantial public health challenge in the region. More and larger studies are needed to help map out the sickle cell burden throughout the country to guide policy and management strategies.

Sickle cell disease: A diagnosis to keep in mind

Sickle cell disease (SCD) is an autosomal recessive genetic disorder. It is the most frequent structural hemoglobinopathy worldwide, and it is produced by an alteration in the globin chain genes. In Chile, there is no data on the prevalence of SCD since it is considered a very rare condition. The incidence of this disease has been increasing due to migration of people from areas with greater presence of SCD. It is important to know and consider this diagnosis in a selected group of patients with anemia, in order to prevent and treat the different complications of this disease. This article reviews the most recent information that shows new concepts in the knowledge of the physiopathology, and especially publications of guidelines and consensus in relation to the diagnosis and management of this con dition.

Prevalence of sickle cell disease among children attending plateau specialist hospital, Jos, Nigeria

Background: An estimate of 250,000 children are born annually with sickle cell disease (SCD) worldwide and 75%–85% of the affected children are born in Africa; where mortality rates for those under age 5 years range from 50% to 80%. Objective: The present study was conducted to estimate the prevalence of SCD among children in Plateau State Specialist Hospital (PSSH), Jos, Nigeria. Methodology: Ethical approval was obtained from the Health Research Ethics Committee of the Hospital. Secondary data on age, gender, and region from the case notes of infants, children and/or adolescents; who received medical care in PSSH from 2012 to 2014 were used. Data were analyzed using frequency tables and Chi-square statistics. Results: The findings revealed that the prevalence of SCD in PSSH, Jos from 2012 to 2014 was 26.9/1000 population of pediatric patients. There was a gradual increase in the prevalence rate from 25.8/1000 in 2012 to 26.8/1000 in 2013 and 28.1/1000 in 2014. However, the case fatality rate of SCD gradually decreased from 15.4% in 2012 to 11.1% in 2013 and 10.3% in 2014. Chi-square test shows that the prevalence of the disease in relation to sex, age, and residence was not statistically significant (P > 0.05). Even though the case fatality rate of the disease decreased, its prevalence increased during the study. Conclusion: Therefore, preventive measure for SCD such as premarital genetic screening and counseling should be emphasized, especially in the southern and central geopolitical zones of Plateau state, where the prevalence was found to be higher.

An Assessment of Knowledge towards Complications of Sickle Cell Disease among General Population in Jeddah City

Background: Sickle cell disease (SCD) is an autosomal recessive disorder characterized by production of abnormal hemoglobin S, and it is associated with high morbidity and mortality. The highest prevalence of SCD in Saudi Arabia is in the Eastern province. Objectives: To assess perceptions and the level of knowledge about SCD and to study factors that may affect them among general population in Jeddah city, Saudi Arabia. Methods: A self-administered questionnaire was distributed among general population residing in Jeddah city, Saudi Arabia. The questionnaire consisted of two sections: (1) socio-demographic information and previous experience with SCD and (2) knowledge about SCD and its complications, which was measured by 20 closed-ended questions. Results: A total of 424 subjectscompleted the questionnaires and participated in the study. More than half (51.4%) of the participants showed good level of knowledge about SCD and its complications. Sex, education level, and previous experience with SCD child had significant association with the level of knowledge (p<0.05). The majority of participants with good level of knowledge were females (86.2%) and at the level of university education (84.4%). Furthermore, all subjects (100%) who had previous experience with SCD child showed good level of knowledge. Conclusion: A moderate level of awareness regarding SCD and its complications was found in our study sample. Educational programs should target the male population and emphasize the nature of inheritance of the common blood diseases and their complications.