Spectrum of Mutations of Thalassemia among Couples from Izeh City, Khuzestan Province, Iran

Hemoglobinopathies are inherited blood disorders with an autosomal recessive pattern. We aimed to evaluate the frequency of mutations of thalassemia and hemoglobinopathies among couples referred to health centers of Izeh in Khuzestan Province, Iran.

This cross-sectional study was performed on 150 couples referred to Izeh Health Centers in 2015-2018. DNA was isolated from peripheral venous blood samples and then the HBB gene was analyzed by using Sanger sequencing. For molecular analysis of α-globin gene, multiplex Gap-PCR and ARMS-PCR was performed to identify mutations of α-thalassemia. 

DNA analysis revealed 13 different mutations for beta thalassemia in studied couples. Three mutations including 36/37 (- T), IVS-II-1 (G>A) and IVS-I-110 (G>A) accounted for 20.7, 19.3 and 13.3% of beta thalassemia mutations, respectively. For alpha thalassemia; α3.7 (49.5%), -- MED (19.1 %) and -α4.2 (3.1%) were identified as the most common mutations. 

Considering common alpha and beta mutations of this geographic area of Iran could be useful concerning genetic counselling in of the population where the rate of consanguineous marriage is high.