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1. [Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene].

Author

Berg LB, Milman NT, Friis-Hansen L, Jensen PD, and Fründ T

Subjects
Child, Female, Hemochromatosis diagnosis, Hemochromatosis genetics, Hemochromatosis therapy, Hemochromatosis Protein, Homozygote, Humans, Iron Overload genetics, Mutation, Phlebotomy, Treatment Outcome, GPI-Linked Proteins genetics, Hemochromatosis congenital
Abstract

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.

Published
2013

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