α-Globin Gene Mutations in Isfahan Province, Iran

Abstract

α-Thalassemia (α-thal) encompasses a spectrum of mutations including deletion and point mutations on the α-globin chains that is characterized by a reduction or complete absence of α-globin genes. Most of the α-thal cases are deletions involving one (α⁺) or both (α⁰) α-globin genes, although point mutations (α^Tα or αα^T) are found as well. In this study, 314 individuals with low hematological values, normal Hb A₂ who were not affected with β-thal or iron deficiency, were investigated for the presence of α-thal mutations. The most common deletion was −α^3.7 (rightward) with a frequency of 70.7%, followed by α^{−5 nt} (–TGAGG) (8.7%), −α^4.2 (leftward) (4.7%), the polyadenylation signal (polyA2) site (AATAAA > AATGAA) (4.2%), −(α)^20.5 (3.8%), Hb Constant Spring [Hb CS, α142, Stop→Gln; HBA2: c.427T > C] (2.9%), polyA1 (AATAAA > AATAAG) and α^{codon 19} (GCG > GC–, α2) (16%), and – –^MED (0.9%). The results of this study may be valuable for designing a plan for carrier screening, premarital genetic counseling, prenatal diagnosis (PND) and reducing excessive health care costs to an affordable level in Isfahan Province, Iran.

• α-Thalassemia (α-thal)
• Iran
• Isfahan Province
• mutations

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