Beta globin haplotypes in hemoglobin S carriers in Colombia
Abstract
Introduction. HbS mutation is accompanied by other mutations in the region of chromosome 11 known as "beta globin cluster". The pattern of combination of these polymorphisms giving rise to the haplotypes that co-inherit the HbS mutation, are called haplotypes ï¢s and are of great epidemiological and clinical significance.Objective. To determine the frequency of major haplotypes associated with S beta-globin gene in Colombian patients heterozygous for hemoglobin S.
Materials and methods. Within the national neonatal screening program at Clínica Colsanitas, nearly 1,200 children have been studied in search of hemoglobinopathies, finding the sickle cell trait as the most common hemoglobinopathy. S beta-globin gene haplotypes were determined by PCR and restriction enzymes, in 33 children with AS hemoglobin electrophoretic patterns. Also electrophoretic patterns of hemoglobin, fetal hemoglobin levels and hematologic parameters of each individual were identified.
Results. The most frequent haplotypes in Colombia are of African origin the Bantú haplotype (36.4 %), followed by Senegal (30.3 %), Benin (21.2 %) and Cameroon (12.1 %). Hemoglobin electrophoresis confirmed the AS phenotype in all patients, and the dosing showed fetal hemoglobin levels below 1%. Hematological parameters analyzed showed normal values in all cases.
Conclusion. The frequency of haplotypes found in mixed population carriers of hemoglobin S differ both in rate and order of appearance, as compared with what was reported more than ten years ago in a Colombian caribbean population with sickle cell anemia.
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References
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