Abnormal hemoglobins among Kurdish population of Western Iran: hematological and molecular features

Abstract

The type and frequency of structural hemoglobin variants and their hematological and molecular characteristics were identified using PCR-RFLP and sequencing techniques in 66 individuals from 33 unrelated families who referred to the two clinics of Kermanshah University of Medical Sciences from 2005 to 2006. We detected 28 subjects carrier for Hb D-Punjab (42.4%), 21 individuals carrier of Hb Q-Iran (31.8%), 12 subjects heterozygous for Hb Setif (18.2%), four cases with sickle cell disease (6.1%), and one case with Hb C (1.5%). All beta(S) genes (4 genes) were linked to the Benin haplotype with negative Taq I site 5' to gamma(A) gene. All beta(D)-Punjab genes (29 genes) were in linkage disequilibrium with haplotype I. The only beta(C) chromosome was linked to haplotype II. Both beta(0)-thalassemia chromosomes with CD15 (G --> A) mutation had haplotype background I. Three beta(+)-thalassemia chromosomes with IVSI.110 (G --> A) mutation were associated with haplotype I [+ - - - - + +]. In turn, the three beta-thalassemia chromosomes with IVS II.1 G --> A mutation were associated with atypical haplotype [- + + + + + -]. Hematological indices of carriers of Hb D-Punjab, Hb Q-Iran and Hb Setif were lower than those reported for normal individuals. For the first time, we have reported the haplotype background of beta(S) gene among Kurdish population of Iran. Our results revealed that Hb D-Punjab is the most prevalent beta-globin chain structural variant in this area and that is followed in frequency by an alpha-chain variant, Hb Q-Iran. The result of present study is useful for clinical management and the establishment of screening programmes in Western Iran.