Berg, L. B.

Friis-Hansen, L.

Fründ, Ernst-Torben Wilhelm

Jensen, Peter-Diedrich Matthias

Milman, N. T.

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.</p

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

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