Genetic haemochromatosis

Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism due to mutation of the HFE gene. In homozygotes (1 in 300 of the UK population), this results in excessive iron absorption from the gut and its deposition in major body organs. This may give rise to fatigue, art...

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Bibliographic Details
Published inInternational journal of clinical practice (Esher) Vol. 56; no. 8; p. 609
Main Author Rosalki, S B
Format Journal Article
LanguageEnglish
Published England 01.10.2002
Subjects
Female
Ferritins - blood
Hemochromatosis - blood
Hemochromatosis - diagnosis
Hemochromatosis - genetics
Homozygote
Humans
Iron - blood
Male
Mass Screening - methods
Middle Aged
Mutation - genetics
United Kingdom
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Summary:Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism due to mutation of the HFE gene. In homozygotes (1 in 300 of the UK population), this results in excessive iron absorption from the gut and its deposition in major body organs. This may give rise to fatigue, arthritis, cardiac failure, diabetes mellitus, hepatic cirrhosis or skin pigmentation, occurring predominantly in males over 50 years of age. Identification uses measurement of serum iron, iron-binding capacity (or transferrin) and ferritin, together with initial or confirmatory genetic DNA studies.
ISSN:1368-5031
DOI:10.1111/j.1742-1241.2002.tb11332.x