Prevalence Of Hemoglobinopathies Research Articles

Neonatal screening for sickle cell disease and other hemoglobinopathies in "the changing Europe".

Inherited hemoglobin disorders (sickle-cell disorders and thalassaemias) represent an increasing global health problem. The early detection of sickle cell disease allows counselling for family members about disease management and future reproductive decisions. The aim of the present study was to estimate the birth prevalence of hemoglobinopathies in newborns of Italian couples and couples of immigrants from endemic areas living in an urban area of northern Italy in order to assess the opportunity of implementing a neonatal screening programme for hemoglobin disorders. Inclusion criteria were infants with at least one of the parents from high risk areas of hemoglobinopathies (Po delta and Sardinia, Italy; Mediterranean area; sub-Saharan Africa; Brazil; Asia) or a positive family history for hemoglobinopathies. The number of infants included in the present study was 337: 13.8% out of 2447 children born at Azienda Ospedaliera Universitaria (AOU) "Maggiore della Carità", Novara, Italy, from 31 December 2012 to 31 January 2014 and 47.6% of 710 infants with at least one foreign parent. 232 infants were wild-type (68.8%) for hemoglobin variants; 48 subjects (14.2%) had no hemoglobin variants, but we could not exclude the presence of a thalassemia trait (Hb A < 15%): a further monitoring of hemoglobin electrophoresis at 6 months was therefore recommended. 20 infants (5.9%) had Hb S (7.7% ± 3 of the total hemoglobin; range 3.5 - 13) and were diagnosed as Hb S carriers and 2 infants (0.6%) had Hb C (7.8% and 12.1% of the total hemoglobin, respectively) and were diagnosed as Hb C carriers. Based on our results, we can conclude that: (i) the sickle-cell disorder (Hb S) is relatively high in our territory, with a heterozygous frequency in infants at risk of 5.9%; (ii) the neonatal screening for hemoglobin disorders appears to be a valid, easy to perform test, which allows an early diagnosis and timely payment of hemoglobinopathies in populations at risk.

Prenatal and newborn screening for hemoglobinopathies

The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Increased immigration of high-risk populations has prompted the implementation of prenatal and newborn screening programs for hemoglobinopathies across Europe and North America. In Canada, the UK, and other European countries, prenatal screening to identify hemoglobinopathy carriers and offer prenatal diagnostic testing to couples at risk is linked to newborn screening, while in the United States, it is still not universally performed. The structure of screening programs, whether prenatal or postnatal, universal or selective, varies greatly among these countries and within the United States. The laboratory methods used to identify hemoglobinopathies are based on the prevalence of hemoglobinopathies within the population and the type of screening performed. Advances in molecular testing have facilitated the diagnosis of complex thalassemias and sickling disorders observed in ethnically diverse populations. This review summarizes the current approaches and methods used for carrier detection, prenatal diagnosis, and newborn screening.

Screening for Type 1 and Type 2 Diabetes

Screening for Type 1 and Type 2 Diabetes

Resultados del trasplante de progenitores hematopoyéticos en hemoglobinopatías: talasemia maior y enfermedad drepanocítica

BackgroundThe prevalence of hemoglobinopathies in Spain is increasing as a result of immigration.Thalassemia major presents with chronic hemolytic anemia that requires regular red blood cell transfusions within the first year of life. Patients with sickle cell disease suffer from chronic anemia, vasculopathy and progressive damage in almost any organ. There is decreased life expectancy in both conditions. Allogeneic hematopoietic stem cell transplantation represents the only potentially curative option. PatientsSeventeen patients (fourteen thalassemia major, and three sickle cell disease) underwent allogeneic hematopoietic stem cell transplantations. ResultsIn the thalassemia group, nine donors were HLA-geno-identical siblings, two were partially matched related donors (one HLA allele mismatch), and three unrelated donors. All three patients with sickle cell disease were transplanted from HLA-geno-identical siblings. The source of stem cells was bone marrow in sixteen cases.Median patient age at transplant was six years (range: 1–16) in the thalassemia group, and twelve years (range: 8–15) in the sickle cell disease group.The graft was successful in all patients. Secondary graft rejection was observed in two thalassemia patients rendering them dependent on blood transfusions. Complete chimerism was observed in thirteen patients and, although mixed chimerism occurred in two, with all of them showing normal hemoglobin levels after transplantation and not requiring further transfusion support. Patients affected by sickle cell disease did not present with new vaso-occlusive crises, and stabilization of pulmonary and neurological function was observed. Chronic graft-versus-host disease was detected in three patients affected by thalassemia, and hypogonadotrophic hypogonadism in five patients. ConclusionsWe conclude that for thalassemia major and sickle cell disease, allogenic hematopoietic stem cell transplantation from HLA-geno-identical siblings offers a high probability of complication-free survival. Despite good results, morbidity and mortality associated with transplantation from unrelated donors is a risk that might be considered, in contrast to a non-curative medical treatment that offers a long term survival. For thalassemia major groups it could be an option, but not for sickle cell disease, which is still in the investigational phase.

A community based pilot study on prevalence of hemoglobinopathies among the antenatal women in a rural area of Darjeeling district, West Bengal

Background: Hemoglobinopathies comprising of thalassemias and various hemoglobin (Hb) variants continue to plague the health system of India. Aims: To find out the prevalence of various hemoglobinopathies in the study population and to identify any association with the various ethnic groups residing in rural community of Darjeeling district, West Bengal. Materials and Methods: A community-based cross-sectional study was conducted in Naxalbari block of Darjeeling district, West Bengal from June 2011 to August 2011, involving hemoglobin variant screening by high-performance liquid chromatography (HPLC) method of 188 antenatal women, selected through multistage random sampling technique. Results: 26.6% of mothers had abnormal hemoglobin, the commonest being the Hemoglobin E (Hb E) trait (15.42%). The prevalence of homozygous HbE, HbE βthalassemia, β-thalassemia trait and hemoglobin S-trait in the studied population was 6.91%, 0.53%, 2.12% and 1.06% respectively. There was a single case of the rare hemoglobin J Meerut. Among those having abnormal hemoglobin, 66% belonged to one ethnic group, Rajbanshis. A statistically significant association was noted between Hb E syndrome (comprising of HbE trait, homozygous HbE, HbE-betathalassemia) and Rajbanshis ( P Conclusion: Findings suggest a high prevalence of hemoglobinopathies particularly Hb E in the studied population, especially Rajbanshis and warrant the need of wider community-based initiative for carrier detection and awareness generation.

Microcytic hypochromic anemia: Should high performance liquid chromatography be used routinely for screening anemic and antenatal patients?

Hemoglobinopathies are the most common inherited red cell disorders worldwide. Identification of these disorders is immensely important epidemiologically and for improved management protocols. Our aim was to determine the prevalence of hemoglobinopathies in patients with microcytic hypochromic anemia and to assess the suitability of using high performance liquid chromatography (HPLC) routinely for screening antenatal cases and patients with anemia. A total of 4335 cases received from Mar 2007 to Nov 2011 were studied for various hemoglobinopathies and variants on BIO RAD 'VARIANT' analyzer. Of the 4335 cases studied, 2119 were antenatal cases, 1710 patients with other disorders and 506 family studies. Of these, 688 cases displayed abnormal hemoglobin fractions on HPLC of which 140 were antenatal women. There were 455 cases of β thalassemia trait, 24 β thalassemia major, 20 thalassemia inter-media, 54 sickle cell trait, fivesickle cell disease, 21 double heterozygous β thalassemia-sickle cell trait, nineand 4 Hb D- Punjab heterozygous and homozygous respectively, three Hb D β Thalassemia trait, 20 and 37 Hb E homozygous and heterozygous respectively, three Hb E β Thalassemia trait and four cases of Hb Q India. Twenty nine adults had isolated HbF elevation. Our study found a high prevalence (15.8%) of hemoglobinopathies amongst microcytic hypochromic anemia and antenatal cases. An accurate diagnosis helps in preventing unnecessary iron loading. Screening all antenatal cases with anemia helps in timely antenatal counseling, thus preventing the psychological trauma of bearing a transfusion dependent child for life.

Routine haemoglobin electrophoresis screening in day case herniotomy in Nigerian children: Is it evidence-based?

Background:To determine the prevalence of haemoglobinopathies in children who require day case herniotomy in our centre and ascertain if routine screening is necessary in all patients who require herniotomy.Materials and Methods:A 12-month retrospective analysis of patients requiring herniotomy in our centre. Data including age, sex, diagnosis, haemoglobin electrophoresis status, surgical outcome and hospital stay were analysed.Results:Ninety-five patients had complete records. There were 84 boys and 11 girls. M:F ratio: 7.6:1. The mean age was 3.2 ± 0.6 years. Fifty-five point eight per cent of the patients had right inguinal hernias while 35.8% had left inguinal hernias. Eight patients (8.4%) had bilateral inguinal hernias. Twenty-six patients (27.4%) had haemoglobinopathies while 69 patients (72.6%) had homozygous Haemoglobin A. The Sickle Cell trait (HbAS) was found in 22 patients (23.2%) while the HbAC was found in three patients (3.2%). One patient (1.1%) had Sickle Cell disease (Haemoglobin SS). He had had blood transfusion and previous history of jaundice. All patients survived and all patients were discharged on the day of surgery (mean hospital stay: 4hrs (range: 2.5 hrs–12 hrs)) except the patient with Sickle Cell disease who was admitted a day before surgery and discharged a day after the operation.Conclusion:One in four children coming for day case herniotomy in our centre had the Sickle Cell trait while only 1% had the Sickle Cell disease. These findings are in keeping with the prevalence in the Nigerian population. Routine screening may not be necessary for all patients coming for herniotomy in our centre. Clear indication(s) should be outlined for screening.

Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study

The population of India is extremely diverse comprising of more than 3,000 ethnic groups who still follow endogamy. Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. The data on the prevalence of β-thalassemias and other haemoglobinopathies in different caste/ethnic groups of India is scarce. Therefore the present multicentre study was undertaken in six cities of six states of India (Maharashtra, Gujarat, West Bengal, Assam, Karnataka and Punjab) to determine the prevalence of haemoglobinopathies in different caste/ethnic groups using uniform methodology. Fifty-six thousand seven hundred eighty individuals (college students and pregnant women) from different caste/ethnic groups were screened. RBC indices were measured on an automated haematology counter while the percentage of HbA(2), HbF and other abnormal Hb variants were estimated by HPLC on the Variant Hemoglobin Testing System. The overall prevalence of β-thalassemia trait was 2.78% and varied from 1.48 to 3.64% in different states, while the prevalence of β-thalassemia trait in 59 ethnic groups varied from 0 to 9.3%. HbE trait was mainly seen in Dibrugarh in Assam (23.9%) and Kolkata in West Bengal (3.92%). In six ethnic groups from Assam, the prevalence of HbE trait varied from 41.1 to 66.7%. Few subjects with δβ-thalassemia, HPFH, HbS trait, HbD trait, HbE homozygous and HbE β-thalassemia as well as HbS homozygous and HbS-β-thalassemia (<1%) were also identified. This is the first large multicentre study covering cities from different regions of the country for screening for β-thalassemia carriers and other haemoglobinopathies where uniform protocols and methodology was followed and quality control ensured by the co-ordinating centre. This study also shows that establishment of centres for screening for β-thalassemia and other haemoglobinopathies is possible in medical colleges. Creating awareness, screening and counselling can be done at these centres. This experience will help to formulate a national thalassemia control programme in India.

Strokes and hemoglobinopathies in Burkina Faso

S and C hemoglobinopathies are a group of inherited blood disorders including sickle cell disease, characterized by the presence of abnormal S and C hemoglobins. They are common in tropical Africa. Stroke is a common complication of sickle cell disease. Studies of the relation between these two diseases are virtually nonexistent in sub-saharan Africa. Our work aimed to study the influence of these hemoglobinopathies on the onset of strokes in adults. This cross-sectional study took place from 1st December 2009 to 31st May 2010 at University Hospital Yalgado Ouedraogo. Out of 142 patients admitted to our neurology department during this period, 74 patients had had strokes. Their mean age was 55.9 years and their sex ratio 1.53. Ischemic strokes accounted for 57% of the total, followed by cerebral hemorrhage (39%). Forty-six patients (62%) were AA genotype, 27 (36%) patients had sickle cell trait (16 AC and 11 AS) and three patients were homozygous CC. This study showed a higher prevalence of hemoglobinopathies in patients with stroke than in the general population. Unlike heterozygous SC and homozygous SS forms, the existence of sickle cell trait in this population does not appear to increase the risk of onset of ischemic stroke but may reduce the age at onset of cerebral hemorrhage.

Nutritional status of young children with inherited blood disorders in western Kenya

There is demonstrated high prevalence of hemoglobinopathies in Africa; however, it is unknown how blood disorders affect nutrition status. To determine the burden of anemia, iron and vitamin A deficiency, stunting, wasting, and underweight amongst young children in western Kenya with one or more blood disorders (haptoglobin 2‐2, glucose‐6‐phosphate dehydrogenase deficiency, sickle cell hemoglobin, and α‐thalassemia), we conducted a cross sectional survey of 882 children aged 6–35 months, randomly selected from 60 villages. Hemoglobin (Hb), ferritin, transferrin receptor (TfR), C‐reactive protein (CRP), alpha‐1‐acid glycoprotein (AGP), retinol binding protein (RBP), anthropometry, and blood disorders using PCR were measured. Of 861 children with Hb results, 71.7% were anemic (Hb&lt;11 g/dL), 27.2% iron deficient (ferritin&lt;12 μg/L, CRP&lt;10 mg/L), and 16.8% vitamin A deficient (RBP&lt;0.7 μmol/L, CRP&lt;10 mg/L). Of the four blood disorders, anemia burden only differed between α‐thalassemics (82.3%), trait (75.6%), or without (66.8%) (p=0.002). Differences in vitamin A and iron deficiency, stunting, wasting, and underweight were not significant. The crude results suggest that in young children in western Kenya, α‐thalassemia is the only blood disorder associated with nutrition status, with children more likely to be anemic.Grant Funding Source: Centers for Disease Control and Prevention, Rollins School of Public Health

Iron Deficiency and Severe Plasmodium falciparum Malaria

Iron Deficiency and Severe Plasmodium falciparum Malaria

Prevalence of Hemoglobinopathies among the Konda Kammaras of Visakhapatnam District, Andhra Pradesh

Hemoglobinopathies including the Sickle cell disease and the thalassemias, which are inherited recessively cause a serious problem across the world in general. In India the prevalence of sickle cell trait varies from 5-40% among many tribal populations from different states however the overall prevalence of beta thalassemia varies from 3-4% but varies from 1-17% in different ethinic groups. As these disorders are inherited prevention of this disease is therefore theoretically possible through population screening and counseling. The present study among the Konda Kammaras is done based on this concept. The present study aims to assess the prevalence of hemoglobinopathies among the Konda Kammaras of Visakhapatnam district. 103 unrelated individuals (50 male and 53 female) aged between 22-58 years were considered in this study. All the individual samples were screened by using NESTROFT, Complete blood count and Cellulose-acetate membrane electrophoresis. The suspected cases have been confirmed of the presence or absence of mutation status by sequence analysis. The overall prevalence of hemoglobinopathies among this population is 14.56% with 13.59% of Sickle cell trait and 0.97% Beta thalassemia trait.

Screening for thalassemia and other hemoglobinopathies in a tertiary care hospital of West Bengal: Implications for population screening

Hemoglobinopathies are common genetic disorders of hemoglobin, which can be prevented by population screening and offering genetic counseling. In absence of population-based screening for hemoglobinopathies, the hospital-based diagnosis register provide idea about the extent of problem in the community. The present study was undertaken to find out the burden of hemoglobinopathies and spectrum of this disorders among the population who were screened in the hospital-based screening program. A record-basedanalysis of subjects who underwent screening for hemoglobinopathies in Burdwan Medical College and Hospital over a period of 3 years and 4 months revealed that overall 29.3% of subjects were positive for hemoglobinopathies. Beta thalassemia heterozygous was the most commonhemoglobinopathy in this region closely followed by hemoglobin E heterozygous. In view of high prevalence of hemoglobinopathies in this region, a routine premarital screening program is needed for identification and prevention of high-risk marriages.

Nine Novel Mutations in the Erythroid Transcription Factor KLF1 Gene Associated with Increased Fetal Hemoglobin Levels in Adults,

Abstract 3191Hereditary persistence of fetal hemoglobin (HPFH) is a benign condition defined as an increased proportion of fetal hemoglobin which persists beyond infancy. HPFH has been identified in a wide range of ethnic groups but is more common in populations with a high prevalence of hemoglobinopathies and thalassemias. This is thought to be due to selective pressure resulting from the ameliorating effect which HPFH can have in some of these disorders. Consequently, although it can occur as a single entity it is often observed as a co-existing condition in a variety of hemoglobin disorders. Although several well established genetic factors have been identified that can cause the HPFH phenotype, they only account for <50% of the Hb F variance observed in adults. More recently, mutations in the erythroid transcription gene KLF1 have been found to be associated with a HPFH phenotype in a single family from Malta (Borg et.al. Nat Genet. 2010; 42(9): 801–805) and in a single family from Sardinia (Satta et.al. Haematologica 2010; 96(5):767–70).We therefore decided to investigate whether KLF1 mutations could be associated with increased Hb F levels observed in patients referred to our laboratory for hemoglobinopathy investigation. 130 adult patient samples with an elevated Hb F level above 1.5% (range 1.5 – 25%) were studied for KLF1 mutations. 55 of these samples had co-existing alpha thalassemia trait, 6 were carriers for sickle cell trait, 28 were beta thalassemia carriers and 41 had no evidence of any other hemoglobinopathy. The results showed that 8% of the cohort had a mutation in the KLF1 gene. 10 different mutations which were predicted to be deleterious (PolyPhen-2 and SIFT) were identified in 10 patients, 8 of which are previously unreported (c.159_169 del GAAGTCTGAGG, c.901C→T, c.902G→A, c.939G→T, c.1001C→A, c.913+1G→A, c.526_527Ins CGGCGCC, c.152T→G). No deleterious KLF1 mutations were identified in a matched cohort of 101 samples referred for hemoglobinopathy investigation that had normal Hb F levels (<1.0%), strongly suggesting that the KLF1 mutations are associated with a HPFH phenotype.In addition, 35 sickle cell disease patients with Hb F levels greater than 10% were investigated. One further unreported deleterious KLF1 mutation (c.914–4_914–1 del CTAG) was found in a sickle cell disease patient with a Hb F level of 20.3%. Interestingly this patient appeared to have a particularly mild phenotype and maintained a hemoglobin level of 12.7g/dl.The KLF1 mutations were predominantly found in individuals of African, Indian and Southeast Asian descent, indicating that KLF1 mutations could be a widespread cause of HPFH in malarial regions where hemogobinopathies are common, possibly making a significant contribution to Hb F variance in these populations. All the mutations identified were heterozygous, with only one case of compound heterozygosity, suggesting that haploinsufficiency for KLF1 may be sufficient to increase Hb F levels. This in turn provides further in-vivo evidence that controlled reduction of KLF1 gene expression could activate fetal hemoglobin expression and provide a potential therapeutic target. Disclosures:No relevant conflicts of interest to declare.

Feasibility of nonselective testing for hemoglobinopathies in early pregnancy in The Netherlands

To examine the feasibility of standardized hemoglobinopathy (HBP) carrier testing for pregnant women in The Netherlands in addition to the standard anemia screening. We assessed the prevalence of HBP in women at the time of the first pregnancy visit using both a prospective cohort (N = 703) and a retrospective series of women selected at random (N = 588). For the purpose of analysis, the population was divided into a high risk and a low risk group for HBP based on maternal ethnicity. Screening for HBP utilized standard screening tests for anemia, with additional high performance liquid chromatography (Variant II); molecular analysis was performed by Gap-polymerase chain reaction (Gap-PCR) and if necessary, direct sequencing and multiplex ligation-dependent probe amplification (MLPA). Family history was reported or collected from the medical records. β-Globin defects were found in 3.9% of the total population (50/1291). The frequency in the high risk population was 5.6% (37/656), compared with 1.2% (6/501) in the low risk group. In the prospective study we found 30 HBP carriers, leading to testing of 16 partners and identification of two couples at risk. One affected child was born. Mean gestational age at the screening was 11.3 weeks with a standard deviation (SD) of 5.8. We found that the prevalence of HBP carriers is high enough in our population to warrant HBP testing for the entire multiethnic population in early pregnancy at the time of anemia screening. This is feasible as most women had their booking early in their first trimester.

Prevalence of Hemoglobinopathies in Rural Bengal, India

India is in the thalassemia belt of the world. Both α- and β-thalassemia (α- and β-thal) are found in West Bengal, a state in the eastern part of India. There was no systematic large published study to investigate the prevalence rates of different hemoglobinopathies in West Bengal. This study was conducted in school and college students, newly married couples and pregnant women after proper counseling in the rural areas of five districts of West Bengal state in eastern India. Thalassemia testing was done using high performance liquid chromatography (HPLC). A total of 35,413 individuals were screened for hemoglobinopathies. β-Thalassemia trait was found in 10.38%, Hb E [β26(B8)Glu→Lys] trait in 4.30%, sickle cell trait in 1.12%, borderline Hb A2 value 0.73%, low Hb A2 0.68% and Hb D trait 0.37%. This is the first study that addresses the prevalence of different hemoglobinopathies in rural areas of West Bengal. The prevalence of β-thal trait is higher in West Bengal than other parts of India. This data is likely to be helpful in planning screening programs in rural areas of West Bengal, India.

Incomplete Follow-up of Hemoglobinopathy Carriers Identified by Newborn Screening Despite Reporting in Electronic Medical Records

ObjectiveHas the recent availability of newborn hemoglobinopathy screening results within patient electronic medical records (EMR) of birth hospitals facilitated follow-up by primary care pediatric providers? MethodsAn online survey of all 137 primary care pediatric providers at a New York City academic medical center was conducted in 2008-2009 to assess practices for hemoglobinopathy trait follow-up. Physicians were resurveyed 1 year later, following educational outreach and a letter of instruction underscoring the availability of screening results in the EMR. All 62 primary care pediatricians were surveyed at a nearby city hospital for comparison. ResultsOverall response rate for the initial survey at the teaching hospital was 58% for pediatricians (N = 57) and family physicians (N = 23), and 50% for pediatricians at the city hospital (N = 31). Despite high prevalence of hemoglobinopathies in the population served and screening results in EMRs, only 46.2% of providers surveyed at the academic center reported routinely checking results of their infant patients: 38.6% of pediatricians and 66.7% of family practitioners. Some respondents were unaware that results are available in the EMR. The proportion of providers checking screening results was not significantly affected by educational intervention (N = 40). Provision of recommended follow-up for a positive trait result was modestly improved, especially in referring families for genetic counseling (25% to 50%, p < .01). In contrast, most pediatricians (83%) at the city hospital routinely check and perform follow-up. ConclusionDespite access to results in the EMR and targeted educational outreach, follow-up of hemoglobinopathy screening by primary care varies widely across clinical sites.

Ethical implications and practical considerations of ethnically targeted screening for genetic disorders: the case of hemoglobinopathy screening

The prevalence of hemoglobinopathies differs among populations due to genetic differences and due to the protective effects of the heterozygote (carrier) state against malaria. Because of the difference in genetic distribution, public health programs have weighed the ethical versus practical implications of ethnically targeted versus universal newborn, and where applicable, prenatal screening. We examine newborn and prenatal screening for hemoglobinopathies in relation to the use of ‘race’ and ethnicity to assess risk for genetic conditions. First, categories of race/ethnicity are social constructs, therefore, observed or self-identified broad racial/ethnic categories are correlated but not necessarily reliable indicators of geographic ancestry or genetic risk. Second, targeting based on ethnicity poses serious issues of logistics and equity for public health programs and clinical services. In the past, newborn screening for hemoglobinopathies in the United States and United Kingdom was often selective, targeted to women of certain ethnic groups or areas with large concentrations of ethnic minority groups. Presently, newborn screening for hemoglobinopathies is universal in both countries and programs emphasize that individuals of all ethnic backgrounds are at risk for carrying a hemoglobin genetic variant. Reported race/ethnicity is still used as a criterion for offering prenatal carrier testing in the United States, where it is not a public health responsibility. In the United Kingdom, prenatal screening under the National Health Service is universal in high-prevalence areas and in low-prevalence areas is targeted based on reported ancestry. The continued use of targeted prenatal screening in both countries reflects the different purposes and modes of laboratory testing in newborn and prenatal screening. The ethical imperative to identify as many affected infants with life-threatening conditions as possible in newborn screening programs is not applicable to prenatal carrier testing. Because newborn screening dried blood spot specimens are tested for multiple disorders, targeted screening poses serious logistical challenges which is not the case in prenatal screening.

Prevalence of haemoglobinopathy in sportsmen in qatar

BackgroundHaemoglobinopathy are the most common genetically inherited disease in many parts of the world. Both health and athletic performance may be affected in athletes training at high intensity and in...

Burden of Sickle Cell Disease and Alpha‐Thalassemia among Young Children in Western Kenya

BackgroundAlthough hemoglobinopathies such as sickle cell hemoglobin and alpha‐thalassemia are common in Africa, there are limited data on their prevalence or their contribution towards childhood anemia.ObjectiveTo determine the prevalence of hemoglobinopathies in preschool children in western Kenya and understand their contributions to anemia.MethodsWe conducted a cross‐sectional survey of 860 children aged 6–35 months randomly selected from 60 villages in western Kenya. Hemoglobin (Hb), ferritin, transferrin receptor, malaria, C‐reactive protein (CRP), retinol binding protein (RBP) and hemoglobin genotype were measured.ResultsOf 828 children with sufficient blood samples, 430 (51.9%) were negative for the ‐3.7kb alpha‐thalassaemia deletion while 319 (38.5%) were heterozygous, and 79 (9.5%) were homozygous. Sickle cell trait and disease were found in 134 (17.2%) and 14 (1.8%) of children, respectively. After excluding 607 children with malaria parasitemia, inflammation (CRP&gt;10 mg/L), iron deficiency (iron stores&lt;0), or vitamin A deficiency (RBP&lt;0.7 mmol/L), there remained a significant difference in the prevalence of anemia among those without alpha‐thalassemia (36.6%), heterozygotes (44.3%), and homozygotes (67.9%, p=0.01).ConclusionsHemoglobinopathies are prevalent among pre‐school children in western Kenya and are an important contributor to anemia.