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TNF-alpha gene polymorphism and its relation to vitamin D, calcium, alkaline phosphatase and ferritin status in Iraqi beta thalassemia patients

Introduction and Aim: Due to a lack of effective medications, beta-thalassemia is a serious issue in Iraq. Thus, the current investigation aimed to explore the relationship between TNF-alpha gene polymorphism G/A (rs 1800629), Vitamin D (Vit D), Calcium (Ca), alkaline phosphatase (ALP), and ferritin status in Iraqi beta thalassemia major and intermediate patients.
 
Materials and Methods: Blood samples were collected from 46 patients suffering from thalassemia major (TM) plus 48 patients suffering from thalassemia intermediate (TI) and 48 of apparently healthy volunteers as control group aged 18-60 years, from Ibn Al-Baladi Hospital, Baghdad. 
 
Results: Studies for the distribution of TNF- alpha G/A (rs 1800629) genotype showed that among TM patients and TI patients, the prevalence of the mutant AA genotype (rs 1800629) was higher in TM patients, while in the control group, it was lower.  Similarly, for the wild genotype (GG), the prevalence was highest in control group followed by T1 and TM patients. The frequency of A allele was high in TM patients, while the G allele frequency was more in the control group. Results also showed that the TNF- alpha genotype variations influenced Vitamin D, Calcium, ALP, and ferritin levels in TM and TI patients, wherein the patients with TNF-alpha mutant genotype (AA) were associated with highest levels of ferritin and ALP among all genotypes groups, while the patients of with TNF-alpha wild genotype (GG) were associated with high levels of Vitamin D and Calcium among all genotypes groups.
 
Conclusion: Patients with at least one copy of (A) allele had a higher risk of TM and TI and there was an association between the heterogeneous (GA) and mutant (AA) genotypes, also presence of (A) allele with status differences of Vit D, Ca, ALP, and ferritin in Iraqi beta thalassemia major and intermediate patients.