title: Molecular Characterization of β-Thalassemia in Nineveh Province Illustrates the Relative Heterogeneity of Mutation Distributions in Northern Iraq.
abstract: Beta thalassemia is an important health problem in Nineveh province, a large province in Northwestern Iraq. No previous study of significance had focused on the spectrum of β-thalassemia mutations in this part of the country. A total of 94 unrelated β-thalassemia minor subjects from the latter province were recruited. Their carrier status was confirmed by full blood count, Hb A2 and F estimation. Thereafter their DNA was subjected to multiplex polymerase chain reaction and reverse hybridization to detect 20 β-thalassemia mutations. A total of eleven different β-thalassemia mutations were documented. The most frequent mutation was IVS-I-110 (G>A) documented in 34 %, followed by IVS-I-6 (T>C) in 9.6 %, IVS-I-5(G>C) in 8.5 %, codon 39 (C>T) and codon 44 (-C) in 7.4 % each, while IVS-I-1(G>A) and IVS-II-1(G>A) were encountered in 6.4 % each. Other mutations were less frequent including codon 8 (-AA), IVS-I-130 (G>C), codon 5 (-CT) and IVS-II-745(C>G). The current study revealed notable differences in the relative frequencies of several β-thalassemia mutations in Nineveh province as compared to other parts of Northern Iraq. Such an observation may be reflective of different ethnic backgrounds and varying historical population interactions. It is believed that these findings complement those of earlier studies on β-thalassemia mutations from the country, and are quite essential in the setting of a proposed national preventive program.
authors.affiliation: Department of Pathology, Scientific Research Center, Faculty of Medical Sciences, University of Duhok, 9 Azadi Hospital Road, Duhok, 1014AM Iraq.
authors.forename: Adil A
authors.initials: AA
authors.lastname: Eissa
authors.affiliation: Department of Pathology, College of Medicine, University of Mousel, Nineveh, Iraq.
authors.forename: Muna A
authors.initials: MA
authors.lastname: Kashmoola
authors.affiliation: Department of Hematology, Azadi Teaching Hospital, Duhok, Iraq.
authors.forename: Sulav D
authors.initials: SD
authors.lastname: Atroshi
authors.affiliation: Department of Pathology, Scientific Research Center, Faculty of Medical Sciences, University of Duhok, 9 Azadi Hospital Road, Duhok, 1014AM Iraq.
authors.forename: Nasir A S
authors.initials: NA
authors.lastname: Al-Allawi
keywords: Beta thalassemia; Iraq; Molecular basis; Nineveh
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