Berg, Line Brunemark3; Milman, Nils Thorm2; Friis-Hansen, Lennart1; Jensen, Peter-Diedrich Mathias3; Fründ, Ernst Torben4
1 Genomisk Medicinsk Enhed, Diagnostisk Center, Rigshospitalet, The Capital Region of Denmark2 Videncenter for Reumatologi og Rygsygdomme, HovedOrtoCentret Rigshospitalet, Rigshospitalet, The Capital Region of Denmark3 unknown4 Neurologisk Afdeling F, NBG
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.
Ugeskrift for Laeger, 2013, Vol 175, Issue 16, p. 1113-4