Identification of ferroportin disease in the Indian subcontinent

The majority of cases are associated with mutations in the HFE gene and inherited in an autosomal recessive manner. 1 Autosomal dominant forms of haemochromatosis have been reported, mainly associated with mutations in the ferroportin 1 gene. 2 This syndrome, termed type 4 haemochromatosis or more recently ferroportin disease, 3 is usually characterised by an early increase in serum ferritin with normal transferrin saturation. [...]we have identified the V162del mutation of ferroportin 1 in a fifth geographical location, emphasising that this mutation is the most common and widely distributed mutation which causes non-HFE haemochromatosis.