Beta-Globin Gene Cluster Haplotypes in Iranian Sickle Cell Patients: Relation to Some Hematologic

Background: Sickle cell anemia is relatively common in Khuzestan province located in Southwest Iran. The characteristics of sickle cell disease in Iran are apparently different from other regions some of these characteristics might be related to β-chain haplotypes. The purpose of this study was to determine the frequency of β-chain haplotypes in 50 patients with homozygous sickle cell anemia in Khuzestan Province. Materials and Methods: The haplotypes were explored around and within the ε–Gγ–Aγ–ѱβ–δ–β globin gene complex by analysing seven polymorphic restriction sites [(1) HincII 5ʹ to ε (2) XmnI-5ʹγG, (3) Hind III-γG, (4) Hind III-γA, (5) HincII- ѱβ, (6) HincII- 3ʹto Ψβ, and (7) HinfI and RsaI - 5ʹto β], followed by restriction digestion and agarose gel electrophoresis. The effect of beta globin haplotypes upon hematologic parameters such as hemoglobin, hemoglobin F, mean corpuscular hemoglobin concentration, reticulocyte count, serum bilirubin and Lactate Dehydrogenase was also studied. Results: The Arab/Indian was the most frequent haplotype, present in 38 percent of chromosomes, followed by Benin haplotype (18%), Senegal haplotype (16%), Bantu haplotype (16%) and Cameroon haplotype (12%). The mean percentage of hemoglobin F in sickle cell anemia patients was 17.18±8.81%, and in the homozygous Arab/Indian haplotype it was higher (20.90%), but the difference was not significant. The hemoglobin F was significantly higher in females compared to males (19.10 versus 14.50, P<0.005). Conclusion: There was no significant correlation between haplotypes and hematological characteristics like fetal hemoglobin level among our patients. Key words: Sickle cell anemia, haplotypes, hemoglobin, fetal, Iran.