National Academy of Agricultural Sciences (NAAS)
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PRINT ISSN : 2319-7692
Online ISSN : 2319-7706 Issues : 12 per year Publisher : Excellent Publishers Email : editorijcmas@gmail.com / submit@ijcmas.com Editor-in-chief: Dr.M.Prakash Index Copernicus ICV 2018: 95.39 NAAS RATING 2020: 5.38 |
ß- thalassemia is one of the important health problems in Basrah, Southern Iraq were the frequency of carriers for ß- thalassemia gene reaches 4.6%. The study aimed to define the types of mutation among patients with ß- thalassemia major (ß-TM) registered at the Center for Hereditary Blood Diseases (CHBD) and geographical distribution of these mutations in different districts of Basrah. Blood samples were collected from 100 known patients with β-TM (53 males and 47 females), their ages ranged from 1-31 year. The amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique was used for molecular diagnosis of seven types of β-thalassemia mutations codon15 (G-A), IVS1nt -5(G-C), codon 8/9(+G), codon 30(G-C), -88(C-T), codon41/42(-TCTT) and codon 8(-AA). The most frequent β- thalassemia mutations are codon-15(G-A) and IVS 1nt-5(G-C) in 31 (37.3%) and 18(21.7%) of patients respectively, followed by codon 8/9 in 14(16.9%) and codon 30 in 8 (9.6%). In addition -88 (C-T) and Codon 41/42(-TCTT) were reported in 10(12.1%) and 2(2.4%) of patients respectively. Codon 8(-AA) was not reported in this study. The frequencies of these mutant genes differ from that of other parts of Iraq and neighboring countries. The study confirms a heterogeneity of diagnosed mutations within different districts of Basrah which have been studied for the first time in this province and signifies the need for further future studies to detect mutations that were not identified in this study.
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