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.

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