The Detection of the most Frequent β-thalassemia Mutation in Kirkuk Ethnic Population by β – Globin Strip Assay MED and Reverse Hybridization

Abstract

Background: There are about 941 beta-thalassemia patients in Kirkuk city, around 362 major thalassemia cases (186 females and 176 males), 257 minor cases (119 males and 138 female ) , and 322intermedia cases (142 males and 180 females), and there is an increase in number. This study aims to detect the frequent mutations in this city, and there has been no other study done before. At the same time, our objective is to determine the possible number of thalassemic patients in the following years. Additionally, decrease the number of consanguinity marriages in the families at risk. Methods: A total of 50 patients with Beta- thalassemia were screened for 22 B- globin mutations: -101 [C > T] – 87 [C > G], -30 [T > A] , codon 5 [-CT] , codon 6 [G > A] HbC , codon 6 [A > T] HbS , codon 6 [ -A ] , codon 8 [-AA] , codon 8/9 [+ G] , codon 15 [TGG > TGA] , codon 27 [G > T] Knossos , IVS1.1[G > A], IVS 1.5 [G> C], IVS 1.6 [T > C], IVS 2.1 [G > A] , IVS 2.745 [C > G] , IVS 2.848 [C > A]. 97.5 % characterized and 2.5 % are uncharacterized cases were further evaluated Results: the most frequent mutation was: codon 8 [- AA] (21.25%), IVS2.1 [G > A] (20%), IVS1.110 [T > G] (16.25%), codon 8/9 [+ G] (12.5%), IVS 1.5 [G > C] (7.5%). Conclusion: –globin strip assay MED (Vienna lab, Vienna, and Austria), covering > 90% of –globin defects, and the results are accurate, fast, and easy to detect mutations.