Hereditary hemochromatosis is an iron overload disorder that can lead to the 
impairment of multiple organs and is caused by mutations in one or more 
different genes. Type 1 hemochromatosis is the most common form of the disease 
and results from mutations in the HFE gene. Juvenile hemochromatosis (JH) is the 
most severe form, usually caused by mutations in hemojuvelin (HJV) or hepcidin 
(HAMP). The autosomal dominant form of the disease, type 4, is due to mutations 
in the SLC40A1 gene, which encodes for ferroportin (FPN). Hereditary 
hemochromatosis is commonly found in populations of European origin. By 
contrast, hemochromatosis in Asia is rare and less well understood and can be 
masked by the presence of iron deficiency and secondary iron overload from 
thalassemia. Here, we provide a comprehensive report of hemochromatosis in a 
group of patients of Asian origin. We have identified novel mutations in HJV, 
HAMP, and SLC40A1 in countries not normally associated with hereditary 
hemochromatosis (Pakistan, Bangladesh, Sri Lanka, and Thailand). Our family 
studies show a high degree of consanguinity, highlighting the increased risk of 
iron overload in many countries of the developing world and in countries in 
which there are large immigrant populations from these regions.