α-Thalassemia Mutation Analyses in Mazandaran Province, North Iran

Abstract

Two hundred and fifty-five patients from Mazandaran Province, Iran, all presenting with hypochromic and microcytic anemia, were selected for α-thalassemia (α-thal) mutation screening. We detected a total of 274 α-globin mutations in 227 (89%) of these patients. Among the 21 different α-globin alleles found, the −α^3.7 (44.9%), polyadenylation signal 2 (poly A2) (AATAAA>AATGAA) (18.2%), –α^4.2 (9.1%), α^{IVS-I(−5 nt)} (6.5%), – –^MED (4.3%), and α^{codon 19 (−G)} (4%) were the most frequent. The other 15 mutations included variants that had not yet been observed in Iran, such as Hb Bleuland [α108(G15)Thr→Asn, ACC>AAC (α2)], as well as a novel mutation on the α2 gene, also not described to date [3 ′ untranslated region (3 ′UTR) nucleotide (nt) 46 (C>A)]. These comprehensive new data are useful for establishing a screening strategy for the effective control of α-thal in Mazandaran Province.

Keywords:

• α-Thalassemia (α-thal)
• Mutation
• Mazandaran Province
• Iran