Molecular basis of haemoglobinopathies and G6PD deficiency in the Comorian population

The Hematology Journal : the Official Journal of the European Haematology Association
C BadensD Lena-Russo

Abstract

The Comoro archipelago is characterised by a high prevalence of red cell genetic disorders such as G6PD deficiency and haemoglobinopathies, being a region endemic for malaria. Over the last 15 years, the city of Marseilles in France has become the main destination for Comorian immigrants. This Comorian community includes patients with sickle cell disease, sickle cell/beta-thalassaemia trait, thalassaemias and G6PD deficiency. Allele frequencies for haemoglobin S, beta-thalassaemia and G6PD deficiency were determined from neonatal and prenatal screenings of the Comorian community. Haemoglobin fractions were detected by isoelectrofocalisation, and the quantitation of HbS, HbA, HbA(2) and HbF was performed by cation exchange high performance liquid chromatography. The molecular study involved 31 alleles carrying the betaS mutation (Cd 6 [A-->T]), six beta-thalassaemic alleles and 17 G6PD-deficient alleles, selected from a group of carriers or affected subjects. Allele frequencies were 3% for haemoglobin S, 1% for beta-thalassaemia trait and 9.5% for G6PD deficiency. Molecular analysis had revealed that the African alleles are predominant, being present in almost all the subjects studied. Mediterranean alleles were found for all th...Continue Reading

Citations

Dec 12, 2012·Journal of Community Genetics·Hanan A Hamamy, Nasir A S Al-Allawi
Dec 16, 2020·Expert Review of Hematology·Aisha Moeen KhanHatem Zayed
Feb 24, 2009·Blood Cells, Molecules & Diseases·Ella T NkhomaErnest Beutler

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