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Abstract
Consanguinity-related hemoglobin chain mutation is typically linked to the rising incidence and prevalence of thalassemia disorders. In Pakistan, consanguinity is directly linked to 70% of cases. The goal of this current research was to ascertain the incidence of various mutation types and how they related to age, gender, consanguinity, ethnicity/regional distribution, and B-thalassemia major patient presentation. Forty-two of the 60 patients who tested positive for beta-thalassemia major also had consanguinity. 15% of the mutations found in the study came from Rawalpindi, and 10% came from Islamabad. While IVS 1-5 (G-C) mutation was found in 3 out of 4 positive cases of Beta thalassemia major in D.G. Khan, Fr 41-42 (-TTCT) and IVS 1-5 (G-C) were more common in Rawalpindi. Of the 48 homozygous mutations, Fr 8-9 (+G) accounted for 33.3% of all observed mutations, while IVS 1-5 (G-C) accounted for 30%. With a percentage of 58.3% for Beta Thalassemia major, Fr 8-9 (+G) was the most commonly observed mutation out of the 12 heterozygous mutations in gene 1. In both males and females, the most commonly observed mutations were Fr 8-9 (+G) and IVS 1-5 (G-C).
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