Abstract
Thalassemia is the most common genetic disease in the province of Najaf in Iraq, where these patients suffer from deficiency or loss of the globin chains which leads to anemia and other complications. The study aimed to define the types of mutation among patients with β-thalassemia major registered at the thalassemia unit in Al-Zahraa Teaching Hospital in AL-Najaf province. Blood samples were collected from 100 known patients with β-TM (51 males and 49 females), their ages about 3–18 year. The amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique was used for molecular diagnosis of six types of β-thalassemia mutations which are: -88 (C>T), codon 15 (G>A), IVS-1-5 (G>C), 8-9 (+G), 30 (G>C) and 8 (del-AA).The results showed that the highest frequency of (Cod-88) mutation in Najaf with 21% as a percentage from the total number of thalassemic samples was studied in this city followed by Cod 15 and Cod 8 which were 18% and 12%, respectively. As for the remaining codes (Cod 8\\9, Cod IVS and Cod 30) they gave the lowest percentages (5%, 3% and 2%).
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