β-Thalassemia Mutations in the Kurdish Population of Northeastern Iraq

Abstract

A random 123 carriers of β-thalassemia (β-thal), identified by the Sulaimaniyah Provincial Premarital Screening Program in northeastern Iraq, were screened for β-thal mutations using multiplex polymerase chain reaction followed by reverse hybridization StripAssay and direct sequencing. A total of 11 different β-thal mutations was identified in the studied samples, of which eight represented 96% of the mutated β-globin genes. These were IVS-II-1 (G>A), IVS-I-110 (G>A), codon 8 (-AA), codons 8/9 (+G), IVS-I-5 (G>C), codon 5 (-CT), IVS-I-6 (T>C) and IVS-I-1 (G>A). Other mutations were less common or sporadic. There were some notable differences in frequencies of various mutations in comparison to other eastern Mediterranean populations, as well as with previous studies of Iraqi Kurds. The latter illustrate the relative heterogeneity of the mutations distributed in Iraq, and the need to screen other areas of the country, to ensure the establishment of an effective prenatal diagnosis program.