Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene

Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene was diagnosed in a 12-year-old Danish girl and her 10-year-old sister. Both appeared healthy without clinical or biochemical signs of organ damage. They had iron overload (plasma transferrin saturation...

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Bibliographic Details
Published in:	Ugeskrift for læger Vol. 175; no. 16; p. 1113
Main Authors:	Berg, Line Brunemark, Milman, Nils Thorm, Friis-Hansen, Lennart, Jensen, Peter-Diedrich Mathias, Fründ, Torben
Format:	Journal Article
Language:	Danish
Published:	Denmark 15-04-2013
Subjects:	Child Female GPI-Linked Proteins - genetics Hemochromatosis - congenital Hemochromatosis - diagnosis Hemochromatosis - genetics Hemochromatosis - therapy Homozygote Humans Iron Overload - genetics Mutation Phlebotomy Treatment Outcome
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Summary:	Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin (HJV) gene was diagnosed in a 12-year-old Danish girl and her 10-year-old sister. Both appeared healthy without clinical or biochemical signs of organ damage. They had iron overload (plasma transferrin saturation 81 and 80%, plasma ferritin 3,671 and 1,356 microgram/l, liver iron content of 375 and 361 micromol/g dry weight, normal myocardial iron content. Their parents were both HJV heterozygous with normal iron status. The girls began phlebotomy treatment with favourable effect.
ISSN:	1603-6824