Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

Translated title of the contribution: Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene

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

Research output: Contribution to journalJournal articleResearchpeer-review

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.

Original languageDanish
JournalUgeskrift for Laeger
Volume175
Issue number16
Pages (from-to)1113-4
Number of pages2
ISSN0041-5782
Publication statusPublished - 15. Apr 2013
Externally publishedYes

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Iron
Mutation
Iron Overload
Siblings
Parents
Weights and Measures
Liver

Keywords

  • Case Reports
  • Journal Article

Cite this

Berg, L. B., Milman, N. T., Friis-Hansen, L., Jensen, P-D. M., & Fründ, T. (2013). Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet. Ugeskrift for Laeger, 175(16), 1113-4.
Berg, Line Brunemark ; Milman, Nils Thorm ; Friis-Hansen, Lennart ; Jensen, Peter-Diedrich Mathias ; Fründ, Torben. / Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet. In: Ugeskrift for Laeger. 2013 ; Vol. 175, No. 16. pp. 1113-4.
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title = "Juvenil h{\ae}mokromatose for{\aa}rsaget af homozygot Gly320Val-mutation p{\aa} h{\ae}mojuvelingenet",
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.",
keywords = "Child, Female, GPI-Linked Proteins, Hemochromatosis, Homozygote, Humans, Iron Overload, Mutation, Phlebotomy, Treatment Outcome, Case Reports, Journal Article",
author = "Berg, {Line Brunemark} and Milman, {Nils Thorm} and Lennart Friis-Hansen and Jensen, {Peter-Diedrich Mathias} and Torben Fr{\"u}nd",
year = "2013",
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day = "15",
language = "Dansk",
volume = "175",
pages = "1113--4",
journal = "Ugeskrift for Laeger",
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Berg, LB, Milman, NT, Friis-Hansen, L, Jensen, P-DM & Fründ, T 2013, 'Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet', Ugeskrift for Laeger, vol. 175, no. 16, pp. 1113-4.

Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet. / Berg, Line Brunemark; Milman, Nils Thorm; Friis-Hansen, Lennart; Jensen, Peter-Diedrich Mathias; Fründ, Torben.

In: Ugeskrift for Laeger, Vol. 175, No. 16, 15.04.2013, p. 1113-4.

Research output: Contribution to journalJournal articleResearchpeer-review

TY - JOUR

T1 - Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

AU - Berg, Line Brunemark

AU - Milman, Nils Thorm

AU - Friis-Hansen, Lennart

AU - Jensen, Peter-Diedrich Mathias

AU - Fründ, Torben

PY - 2013/4/15

Y1 - 2013/4/15

N2 - 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.

AB - 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.

KW - Child

KW - Female

KW - GPI-Linked Proteins

KW - Hemochromatosis

KW - Homozygote

KW - Humans

KW - Iron Overload

KW - Mutation

KW - Phlebotomy

KW - Treatment Outcome

KW - Case Reports

KW - Journal Article

M3 - Tidsskriftartikel

VL - 175

SP - 1113

EP - 1114

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 16

ER -

Berg LB, Milman NT, Friis-Hansen L, Jensen P-DM, Fründ T. Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet. Ugeskrift for Laeger. 2013 Apr 15;175(16):1113-4.