Globin Gene Mutations in Isfahan Province, Iran Publisher Pubmed



Karamzade A¹ ; Mirzapour H¹ ; Hoseinzade M² ; Asadi S² ; Gholamrezapour T² ; Tavakoli P² ; Selebi M^{2, 3, 4}
Source: Hemoglobin Published:2014

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 (αTα or ααT) 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 -α3.7 (rightward) with a frequency of 70.7%, followed by α-5 nt (-TGAGG) (8.7%), -α4.2 (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 αcodon 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. © 2014 Informa Healthcare USA, Inc.