Table 2.

Comparison between hereditary hemochromatosis and ferroportin disease

	Hereditary hemochromatosis	Ferroportin disease
Gene affected	HFE	SLC40A1
Gene location	short arm of chromosome 6	long arm of chromosome 2
Gene function	control of iron absorption through regulation of hepcidin	iron export from enterocytes and reticuloendothelial cells
Inheritance	autosomal recessive	autosomal dominant
Prevalence	1 in 200–300	1 in 1,000,000
Penetrance	<50%	full penetrance
Age at onset	40–60 years	biochemical abnormalities appear in 1st decade
Pathology	affects hepatocytes	affects Kupffer cells
Main clinical features	liver cirrhosis, arthropathy, cardiac disease, endocrinopathy	liver disease, anemia
Laboratory features	elevated ferritin with elevated transferrin saturation	elevated ferritin with normal transferrin saturation
Response to phlebotomy	well tolerated	not well tolerated