HFE Gene Mutation Among Turkish Patients with Type 2 Diabetes Mellitus

ABSTRACT

Purpose: Hereditary haemochromatosis (HH) is a genetic disease with autosomal recessive trait. Recent studies demonstrated the importance of C282Y gene mutation in the aetiology of HH. Free iron accumulating in pancreas deteriorates insulin secretion and synthesis which can lead to insulin resistance and the development of type 2 diabetes mellitus (T2DM) in patients with HH. There has been no study determining the prevalence of haemochromatosis gene (HFE) mutations and HH in diabetic patients in Turkey. We planned this study in order to investigate the C282Y and H63D mutation that cause HH in T2DM.
Material and Method: In this study, we included185 patients with T2DM. Patients older than thirty-five years, not taking vitamin supplementation, iron preparates and/or oral contraceptives and those without any signs of active bleeding were included while patients with any infectious, systemic or immune disease were excluded from the study. Serum transferrin saturation (TS), ferritin, iron, and total iron binding capacity levels were measured after 12 hours of fasting.
Results: Ten (5.4%) cases with TS of more than 45% were detected at the first evaluation. The test was repeated in those cases and 6 patients with TS of more than 45% were left according to the second measurement. H63D and C282Y gene polymorphisms were not present in these patients.
Discussion: We did not find any correlation between the existence of T2DM and HFE polymorphisms. We assume that screening for HH in T2DM in our population is not needed.