World Distribution, Population Genetics, and Health Burden of the Hemoglobinopathies

Williams, Thomas N.; Weatherall, D. J.

doi:10.1101/cshperspect.a011692

Cited by 355 publications

(291 citation statements)

References 97 publications

(121 reference statements)

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“…Several reasons including the founder effect and population migration may explain the unequal distribution of gene frequencies among different populations, even within the same country. In addition, as explained in many reports, the existing high frequencies of thalassemia genes may reflect natural selection of these alleles that protect the population from severe malaria, as well as the longstanding practice of consanguineous marriage (Williams and Weatherall 2012).…”

Section: Discussionmentioning

confidence: 96%

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Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups

Nguyen

Sanchaisuriya

et al. 2017

J Community Genet

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Thalassemia is a genetic condition that can result in long and expensive treatments, and severe thalassemia may lead to death if left untreated. Couples contributing two genes for thalassemia place their children at particular risk for severe thalassemia. Gene frequency of thalassemia varies in Vietnam, but presents remarkably high levels among some ethnic minority groups. Limited information about thalassemia frequency makes prevention and control of thalassemia difficult. This study aimed to determine gene frequency of certain types of thalassemia among 390 women of reproductive age of the Ta-Oi ethnic minority. Hemoglobin and DNA analyses were carried out to diagnose thalassemia and hemoglobinopathies. Of the total participants, 56.1% (95% CI = 51.1-61.1) carried thalassemia genes. A remarkably high frequency of hemoglobin Constant Spring (Hb CS) of 23.8% (95% CI = 19.7-28.4) was noted. The frequency of α + -thalassemia (−3.7 kb deletion) was 26.4% (95% CI = 22.1-31.1), while hemoglobin E (Hb E) and hemoglobin Paksé (Hb Ps) were identified at frequencies of 14.6 (95% CI = 11.2-18.5) and 2.6% (95% CI = 1.4-5.0), respectively. Further analysis of α-globin gene haplotype revealed the same Hb CS haplotype (+ − M + + −) as of the Co-Tu minority, a neighboring minority of the Ta-Oi, indicating that these two minorities may share the same ancestors. This information will be helpful for further studies in population genetics, as well as the development prevention and control program in the region.

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Section: Discussionmentioning

confidence: 96%

“…Due to global migration, thalassemia and hemoglobinopathies are now spreading throughout the world and have become a serious burden for healthcare systems (Williams and Weatherall 2012). Not only the patients suffer from health problems but also their families suffer mentally and economically from a requirement of long-term medical care.…”

Section: Discussionmentioning

confidence: 99%

Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups

Nguyen

Sanchaisuriya

et al. 2017

J Community Genet

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“…They are the most common recessive diseases worldwide, with an estimation of 1-5% of the global population carriers of a genetic thalassemia mutation [1]. The thalassemias are most frequent in southeastern and southern Asia, in the Middle East, in the Mediterranean countries, and in North and Central Africa; however, in view of continued migration, thalassemias are now also becoming increasingly common in North Europe and North America [2,3]. These changes have challenged health professionals and policymakers throughout the region in providing equitable access to quality services for prevention, diagnosis and adequate treatment of thalassemias [4].…”

Section: Introductionmentioning

confidence: 99%

Laboratory diagnosis of thalassemia

Brancaleoni

Pierro

Motta

et al. 2016

Int J Lab Hematology

158

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Summary The thalassemias can be defined as α‐ or β‐thalassemias depending on the defective globin chain and on the underlying molecular defects. The recognition of carriers is possible by hematological tests. Both α‐ and β‐thalassemia carriers (heterozygotes) present with microcytic hypochromic parameters with or without mild anemia. Red cell indices and morphology followed by separation and measurement of Hb fractions are the basis for identification of carriers. In addition, iron status should be ascertained by ferritin or zinc protoporphyrin measurements and the iron/total iron‐binding capacity/saturation index. Mean corpuscular volume and mean corpuscular hemoglobin are markedly reduced (mean corpuscular volume: 60–70 fl; MCH: 19–23 pg) in β‐thalassemia carriers, whereas a slight to relevant reduction is usually observed in α‐carriers. HbA2 determination is the most decisive test for β‐carrier detection although it can be disturbed by the presence of δ‐thalassemia defects. In α‐thalassemia, HbA2 can be lower than normal and it assumes significant value when iron deficiency is excluded. Several algorithms have been introduced to discriminate from thalassemia carriers and subjects with iron‐deficient anemia; because the only discriminating parameter is the red cell counts, these formulas must be used consciously. Molecular analysis is not required to confirm the diagnosis of β‐carrier, but it is necessary to confirm the α‐thalassemia carrier status. The molecular diagnosis is essential to predict severe transfusion‐dependent and intermediate‐to‐mild non‐transfusion‐dependent cases. DNA analysis on chorionic villi is the approach for prenatal diagnosis and the methods are the same used for mutations detection, according to the laboratory facilities and expertise.

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“…13 Hb E traits is mainly seen in the eastern half of Indian sub-continent, Bangladesh, Myanmar and east and south east Asia. 14 In Hb E trait carriers the red blood cells are either normal or mildly microcytic and few target cell may be seen. The frequency of β trait and Hb E trait in Bangladeshi population is 4.1% and 6.1%.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Types of Thalassemias and Hemoglobinopathies: Study in a Tertiary Level Children Hospital in Bangladesh

Khan

Banu

Sadiya

et al. 2017

Thalassemia Reports

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Thalassemias and hemoglobinopathies are the most common hemolytic congenital disorders in Bangladesh as in many parts of the world. This study was done to find the common types of thalassemias and abnormal hemoglobin variants seen in Bangladeshi populations. A total of 4813 samples were analyzed for hemoglobin disorders out of which 2308 (49.95%) showed abnormalities. The samples were analyzed by Bio Rad D 10 Analyzer in 3914 (81.32%) cases, BIORAD VARIANTβ thalassemia short program using the principle of high performance liquid chromatography in 474 (9.85%) cases and by CAPILLARYS 2 FLEX PIERCING utilizing capillary electrophoresis in 425 (8.83%) cases. The samples were analyzed in the

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World Distribution, Population Genetics, and Health Burden of the Hemoglobinopathies

Cited by 355 publications

References 97 publications

Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups

Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups

Laboratory diagnosis of thalassemia

Spectrum of Types of Thalassemias and Hemoglobinopathies: Study in a Tertiary Level Children Hospital in Bangladesh

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