Article Text
Liver
Curriculum based clinical reviews
The clinical management of hereditary haemochromatosis
Abstract
Hereditary haemochromatosis is an autosomal recessive disorder with variable penetrance. Most patients are C282Y homozygotes while heterozygotes or patients who are homozygous with other mutations are uncommonly affected. The true genotype to phenotype expression remains unclear. Treatment with phlebotomy is highly effective and cost-efficient while liver transplantation confers a curative option.
- iron metabolism
- haemochromatosis
- iron overload