The clinical management of hereditary haemochromatosis.
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ABSTRACT:
SUBMITTER: Pericleous M
PROVIDER: S-EPMC5868443 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Publications
The clinical management of hereditary haemochromatosis.
Pericleous Marinos M Kelly Claire C
Frontline gastroenterology 20170923 2
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. ...[more]
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