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

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, Ernst Torben Fründ

3 Citations (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.

Translated title of the contribution	Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	175
Issue number	16
Pages (from-to)	1113-4
Number of pages	2
ISSN	0041-5782
Publication status	Published - 15 Apr 2013

Cite this

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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",

author = "Berg, {Line Brunemark} and Milman, {Nils Thorm} and Lennart Friis-Hansen and Jensen, {Peter-Diedrich Mathias} and Fr{\"u}nd, {Ernst Torben}",

year = "2013",

month = apr,

day = "15",

language = "Dansk",

volume = "175",

pages = "1113--4",

journal = "Ugeskrift for Laeger",

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publisher = "Almindelige Danske Laegeforening",

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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, Ernst 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

M3 - Tidsskriftartikel

C2 - 23651750

VL - 175

SP - 1113

EP - 1114

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 16

ER -

Juvenil hæmokromatose forårsaget af homozygot Gly320Val-mutation på hæmojuvelingenet

Abstract

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