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Abnormal hemoglobins among Kurdish population of Western Iran: hematological and molecular features
Zohreh Rahimi1, Adriana Muniz, Hadi Mozafari
1Medical Biology Research Center, Medical School, Kermanshah University of Medical Sciences, Kermanshah, Iran. zrahimi@kums.ac.ir
Insights
Hemoglobin D-Punjab and Hemoglobin Q-Iran are the most common structural hemoglobin variants in Western Iran. This study identified their frequencies and linked genetic backgrounds, aiding in screening programs.
Area of Science:
- Hematology
- Molecular Biology
- Genetics
Background:
- Structural hemoglobin variants and thalassemias are significant public health concerns.
- Understanding their prevalence and molecular characteristics is crucial for effective management and screening.
- Previous data on hemoglobin variants in the Kurdish population of Iran was limited.
Purpose of the Study:
- To determine the frequency and characteristics of structural hemoglobin variants in Western Iran.
- To investigate the molecular basis, including haplotype association, of these variants.
- To provide data for clinical management and screening program development.
Main Methods:
- Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) and DNA sequencing.
- Analysis of 66 individuals from 33 unrelated families.
- Hematological index assessment of variant carriers.
Main Results:
- Hemoglobin D-Punjab (42.4%) and Hemoglobin Q-Iran (31.8%) were the most prevalent structural variants.
- Sickle cell disease (6.1%) and Hemoglobin C (1.5%) were also detected.
- Beta-globin gene (beta(S)) was linked to the Benin haplotype; beta(D)-Punjab to haplotype I; beta(C) to haplotype II. Beta-thalassemia mutations were associated with specific haplotypes.
Conclusions:
- Hemoglobin D-Punjab is the most common beta-globin chain variant in this Iranian population, followed by the alpha-chain variant Hemoglobin Q-Iran.
- The study provides the first report on the haplotype background of the beta(S) gene in the Kurdish population.
- Findings are valuable for guiding clinical interventions and establishing targeted hemoglobinopathy screening programs in Western Iran.
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.
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