The most common form of hemochromatosis is caused by mutations in the HFE gene. 
Rare forms of the disease are caused by mutations in other genes. We present a 
patient with hyperferritinemia and iron overload, and facial flushing. Magnetic 
resonance imaging was performed to measure hepatic iron overload, and a 
molecular study of the genes involved in iron metabolism was undertaken. The 
iron overload was similar to that observed in HFE hemochromatosis, and the 
patient was double heterozygous for two novel mutations, c.-20G>A and c.718A>G 
(p.K240E), in the HFE and ferroportin (FPN1 or SLC40A1) genes, respectively. 
Hyperferritinemia and facial flushing improved after phlebotomy. Two of the 
patient's children were also studied, and the daughter was heterozygous for the 
mutation in the SLC40A1 gene, although she did not have hyperferritinemia. The 
patient presented a mild iron overload phenotype probably because of the two 
novel mutations in the HFE and SLC40A1 genes.