The Effect of Haemochromatosis Mutation on Iron Overload in Thalassaemia Major Patients

Abstract

BACKGROUND Haemochromatosis is a genetic form of iron overload due to a defective HFE gene. Secondary iron overload is the main complication in transfusion-dependent thalassaemia major patients. This study aims at evaluating the degree of iron overload in β-thalassaemia major patients with and without HFE mutations (C282Y, H63D and S65C). MATERIALS AND METHODS A descriptive observational study was conducted including fifty diagnosed -thalassaemia major cases. Detailed clinical history and iron profile was estimated. DNA analysis by PCR-RFLP method for HFE gene mutations was performed. RESULTS After DNA analysis of all the thalassaemia major cases, two groups were identified, one with HFE gene mutation and other without HFE gene mutation. Iron profile of both the groups (with and without HFE gene mutation) was estimated and compared. Only H63D mutation (out of three HFE gene mutations) was detected in 16% cases (8 out of 50 cases), which comprised the group with mutation. Comparison of iron parameters between two groups (with and without HFE gene mutation) showed significant difference in percent transferrin saturation (p=0.02), while other iron parameters (serum iron and serum ferritin) did not show significant difference. CONCLUSION No significant difference between serum ferritin values (a marker of iron overload) of groups with and without mutation (mean ferritin level 4641±2166 ng/mL and 4170±2461 ng/mL, respectively) was found (p=0.61), in a patient population in whom transfusion protocol and proper chelation regimen was followed.