Distribution of alpha-thalassemia mutations in Iranian population.

Background: Alpha-thalassemia as one of the most common monogenetic disorders is widely spread over the Mediterranean, Southeast Asian, and Middle Eastern populations, including Iran. Although beta-thalassemia is much more common than alpha-thalassemia, alpha-thalassemia is still one of the main health problems in Iran with different mutation frequencies in various ethnic groups. So the evaluation of alpha-thalassemia mutations could be helpful to detect carriers as well as prevention strategy in Iranian population.
Objectives: The aim of this study was to investigate the spectrum and frequencies of alpha-globin mutations in different ethnic groups of southern Iran.
Materials and Methods: Common alpha-globin mutations were evaluated in 4010 Iranian population using a reverse dot blot for all point mutations and gap-polymerase chain reaction.
Results: Out of all individuals, 3993 were distinguished as carriers of alpha-thalassemia mutations. Thirteen types of alpha-thalassemia mutations were discovered. Allele of α(3.7) mutation was the most prevalent (43.84%) followed by the α(IVS1/-5NT) allele with the prevalence of 4.91%. The less frequent alleles were Hb ICARIA and α(codon16) with the prevalence of 0.04 and 0.01%, respectively.
Conclusion: Our findings are essential for carrier screening, genetic counseling, and prenatal diagnosis in order to decrease the prevalence of α-thalassemia in Iran which is one of the goals of the national screening program.