Amit Kumar Tiwari1, Tapas Ranjan Behera2, Maikal Kujur3, Amar Bhadur Singh4
BACKGROUND
Thalassemia major patients are dependent on frequent blood transfusion and consequently develop iron overload. HFE gene mutations (C282Y, H63D and S65C) in hereditary haemochromatosis has been shown to be associated with iron overload. The study aims at finding the association of HFE gene mutations in β-thalassemia major patients.
MATERIALS AND METHODS
A descriptive observational pilot study was conducted including fifty diagnosed ?-thalassemia major cases. DNA analysis by PCR-RFLP method for HFE gene mutations was performed.
RESULTS
Only H63D mutation (out of three HFE gene mutations) was detected in 8 out of 50 cases. Observed frequency of H63D mutation was 16%. While frequency of C282Y and S65C were 0% each.
CONCLUSION
The frequency of HFE mutation in ?-thalassemia major is not very common.
