Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

Line Brunemark Berg, Nils Thorm Milman, Lennart Friis-Hansen, Peter-Diedrich Mathias Jensen, Ernst Torben Fründ

3 Citationer (Scopus)

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.
Bidragets oversatte titelJuvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind175
Udgave nummer16
Sider (fra-til)1113-4
Antal sider2
ISSN0041-5782
StatusUdgivet - 15 apr. 2013

Emneord

  • Child
  • Female
  • GPI-Linked Proteins
  • Hemochromatosis
  • Homozygote
  • Humans
  • Iron Overload
  • Mutation
  • Phlebotomy
  • Treatment Outcome

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