RT Journal Article
SR Electronic
T1 The clinical management of hereditary haemochromatosis
JF Frontline Gastroenterology
JO Frontline Gastroenterol
FD BMJ Publishing Group Ltd
SP flgastro-2017-100872
DO 10.1136/flgastro-2017-100872
A1 Marinos Pericleous
A1 Claire Kelly
YR 2017
UL http://fg.bmj.com/content/early/2017/09/23/flgastro-2017-100872.abstract
AB 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.