Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

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.