RESUMO
BACKGROUND: Mutations in the HFE gene have been shown to be strongly associated with hereditary haemochromatosis, an autosomal recessive disease of iron overloading. The majority of patients with hereditary haemochromatosis possess a homozygous mutation C282Y that disrupts the binding of the HFE gene with beta2 microglobulin and prevents its surface expression. Another HFE mutation H63D is known to increase the relative risk of developing hereditary haemochromatosis. This disease is rare in India although secondary haemochromatosis is commonly seen among children suffering from thalassaemia major. The status of HFE mutations has not been explored among Indians, particularly in patients with thalassaemia major. It is also possible that in India clinical haemochromatosis could be masked by iron deficiency. METHODS: We examined a cohort of 59 unrelated, healthy individuals from north India, 57 from south India and 75 thalassaemia major patients from north India for HFE mutations (C282Y and H63D) in cis/trans by the polymerase chain reaction sequence-specific primer method. RESULTS: The C282Y and H63D mutations in the HFE gene were rare among Indians. Although the HFE mutations were increased among patients of thalassaemia their effect on iron burden or disease pathogenesis remains unclear. CONCLUSIONS: Hereditary haemochromatosis is rarely observed among Indians and so are the C282Y and H63D mutations in the HFE gene. Long-term follow up studies would be required to determine whether the relatively higher frequency of these mutations among patients of thalassaemia has any influence on iron accumulation.