5613463 prevalence of hemochromatosis hfe gene polymorphism among egyptian βthalassemia patients and its relation to development of diabetes mellitus

Background: β-thalassemia constitutes a major health problem in Mediterranean countries. Impaired glucose tolerance and diabetes mellitus are observed complications in patients with thalassemia. However, the mechanisms leading to diabetes are still poorly understood.H63D gene polymorphism, is the second variant of hemochromatosis (HFE) gene, that causes hemochromatosis. Aims: We aimed to assess the frequency of diabetes mellitus in β -thalassemia patients and the frequency of H63D gene polymorphism as well as its relation to development prediabetes and diabetes mellitus in β -thalassemia patients. Methods: Case control study was conducted on 50 patients with β-thalassemia and 50 healthy control with matched age and sex. The age ranged from 6-18y. Study subjects were investigated with oral glucose tolerance test, fasting C-Peptide, fasting insulin, anti -gad and screened for frequency of H63D mutation of HFE gene using restriction fragment length polymorphism. Results: 32% of patients had normal glycemic state, 52% had impaired glucose tolerance and 16% were diabetic P<0.001. H63D mutation was more frequent in thalassemia patient. GG genotype was significantly higher in β- thalassemia patients versus healthy controls (68%vs24%) P<0.001. GG genotype was prevalent in 77%and 75% of prediabetes and diabetic thalassemia patients respectively, versus 50% in patients with normal glycemic state P<0.001. Conclusions: GG genotype of H63D mutation of hemochromatosis HFE gene was frequent in our β- thalassemia patients which may be considered as a genetic risk factor for development of impaired glucose tolerance and diabetes in patients with. β-thalassemia. Keywords: thalassemia; diabetes; HFE gene mutation References 1. Azami M et al, Caspian J Intern Med. 2017; 8:1-15. 2. Hashemi A et al, J Shahid Sadoughi Univ Med Sci. 2009;17:220–8.