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All Journal Makara Journal of Science
Khan, Muzammil Ahmad
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HBB Gene Mutations and Their Impact on Phenotype and Protein Function in β-Thalassemia Families from Dera Ismail Khan, Pakistan Ayaz, Muhammad; Muzammal, Muhammad; Shafiq, Maria; Ahmad, Nisar; Iman, Dua; Faraz, Maria; Hoti, Yaser Uddin; Siraj, Sami; Khan, Muzammil Ahmad; Khan, Jabbar
Makara Journal of Science Vol. 30, No. 3
Publisher : UI Scholars Hub

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Abstract

The current genetic study aimed to screen out the genetic basis of ß-thalassemia in five unrelated consanguineous Pakistani families. Blood samples were collected, and targeted Sanger Sequencing of the HBB gene was done. Serum Interleukin-6 (IL-6) and quantitative measurements of T Helper and T Suppressor Lymphocytes were also carried out. Additionally, in silico analysis, including protein modeling, Protein-Protein docking, and Multiple sequence alignment, was also performed. Genetic analysis identified a homozygous mutation c.92+5G > C (IVS-I+5 G > C) in families 1, 2, and 3, which resulted in β+/ β+ Thalassemia Intermedia phenotype. While in the case of family 4, we identified a c.92G > C + c.92+5G > C (IVS-I+5 G > C) mutation in a compound heterozygous state that led to β+ Thalassemia Intermedia phenotype. However, in the case of family 5, a rare frameshift homozygous mutation c.17_18delCT was identified, reported only in the Balochi ethnic group throughout the history of thalassemia in Pakistan. Heterogeneous quantities of IL-6, T helper lymphocytes, and T Suppressor Lymphocytes were found in all the patients. This study offers an effective incentive to establish mutation detection as well as prenatal diagnosis (PND) centers on a larger scale, in the different ethnicities residing in the district Dera Ismail Khan (D. I. Khan), KP, Pakistan
Co-Authors Ahmad, Nisar Faraz, Maria Hoti, Yaser Uddin Iman, Dua Khan, Jabbar Muhammad Ayaz, Muhammad Muzammal, Muhammad Shafiq, Maria Siraj, Sami