Genetic HFE-haemochromatosis

Nils T Milman; Frank V Schiødt; Anders E Junker; Karin Magnussen; Torben Nathan; Thomas Damgaard Sandahl

Genetic HFE-haemochromatosis

Translated title of the contribution: Genetic HFE-haemochromatosis

Nils T Milman, Frank V Schiødt, Anders E Junker, Karin Magnussen, Torben Nathan, Thomas Damgaard Sandahl

1 Citation (Scopus)

Abstract

HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardio-myo-pathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.

Translated title of the contribution	Genetic HFE-haemochromatosis
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	180
Issue number	51
ISSN	0041-5782
Publication status	Published - 17 Dec 2018

Cite this

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title = "Genetic HFE-haemochromatosis",

abstract = "HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardio-myo-pathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.",

author = "Milman, {Nils T} and Schi{\o}dt, {Frank V} and Junker, {Anders E} and Karin Magnussen and Torben Nathan and Sandahl, {Thomas Damgaard}",

year = "2018",

month = dec,

day = "17",

language = "Dansk",

volume = "180",

journal = "Ugeskrift for Laeger",

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publisher = "Almindelige Danske Laegeforening",

number = "51",

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TY - JOUR

T1 - Genetic HFE-haemochromatosis

AU - Milman, Nils T

AU - Schiødt, Frank V

AU - Junker, Anders E

AU - Magnussen, Karin

AU - Nathan, Torben

AU - Sandahl, Thomas Damgaard

PY - 2018/12/17

Y1 - 2018/12/17

N2 - HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardio-myo-pathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.

AB - HFE-haemochromatosis is the most frequent genetic disposition for iron overload in ethnic Danes: 20,000 persons are homozygous for the C282Y mutation. The disorder has a long preclinical phase with increasing body iron overload, and 30% of males will develop clinically overt disease, presenting with symptoms of fatigue, arthralgias, reduced libido, erectile dysfunction, cardiac disease, diabetes and liver disease, later progressing into cirrhosis, cardio-myo-pathy, pancreatic fibrosis and osteoporosis. Treatment consists of phlebotomies, which in the preclinical and early clinical phases ensure normal survival.

M3 - Tidsskriftartikel

C2 - 30618363

SN - 0041-5782

VL - 180

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 51

ER -

Genetic HFE-haemochromatosis

Abstract

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