Spectrum of α-Globin Gene Mutations in the Kerman Province of Iran

Abstract

Mutation of the α-globin gene may result in α-thalassemia (α-thal) which is characterized by a reduction or complete absence of the gene expression. In this study, 607 individuals with low levels of blood cell indices and normal Hb A₂ were referred to our laboratory for investigation of any α-thal mutations. We used the gap-polymerase chain reaction (gap-PCR) method and an α-globin strip assay kit to detect the mutation. Our results showed that −α^3.7 was the most common mutation (83.8%) in the overall mutated alleles of the α-globin gene. The second and third most frequent α-globin gene defects were codon 19 (α2) and IVS-I, −5 nt/αα (α2), 5.7 and 4.2%, respectively. We found that the spectrum of α-globin gene mutation in Kerman Province was in accordance with what was previously reported in other Iranian provinces where malaria has selected these protective traits.

• α-Globin gene
• Deletions
• α-Thalassemia (α-thal)