Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods

Nils Milman; Pernille Koefoed; Palle Pedersen; Finn Cilius Nielsen; Hans Eiberg

Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods

Nils Milman, Pernille Koefoed, Palle Pedersen, Finn Cilius Nielsen, Hans Eiberg

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

10 Citationer (Scopus)

Abstract

Udgivelsesdato: 2003-Dec

Originalsprog	Engelsk
Tidsskrift	European Journal of Haematology
Vol/bind	71
Udgave nummer	6
Sider (fra-til)	403-7
Antal sider	4
ISSN	0902-4441
Status	Udgivet - 2003

Bibliografisk note

Keywords: Adolescent; Adult; Aged; Denmark; Female; Gene Frequency; Genotype; Hemochromatosis; Heterozygote; Histocompatibility Antigens Class I; Homozygote; Humans; Male; Membrane Proteins; Middle Aged; Mutation; Phenotype

Citationsformater

@article{153cefd08bff11de8bc9000ea68e967b,

title = "Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods",

abstract = "AIM: To assess the frequency of the C282Y and H63D mutations on the HFE gene in Danish patients with clinical hereditary haemochromatosis initially diagnosed by phenotypic methods. METHODS: In the period 1950-1985, an epidemiological survey in Denmark identified 179 patients with clinical idiopathic haemochromatosis diagnosed by phenotypic methods (serum transferrin saturation, serum ferritin, liver biopsy and mobilisable body iron stores). In 32 unrelated patients, frozen blood samples were available for genetic analysis. In a subsequent series of 26 unrelated Danish patients, a phenotypic diagnosis of clinical idiopathic haemochromatosis was made before blood samples were taken for HFE genotyping. The total series consisted of 58 patients (40 men and 18 women) with a median age of 60 yrs (range 18-74). HFE genotyping was performed by the polymerase chain reaction (PCR) technique. RESULTS: Among the patients, 55 of 58 (94.8%) were C282Y/C282Y homozygous. One 63-year-old woman (1.7%) was compound C282Y/H63D heterozygous. Two women (3.4%), aged 42 and 43 yrs were negative for both the C282Y and the H63D mutation. CONCLUSION: In the Danish population, homozygosity for the C282Y mutation appears to be the prevailing cause of clinically overt genetic haemochromatosis. This finding has implications both for the evaluation of patients with iron overload disorders and for the strategy in future population screening surveys.",

author = "Nils Milman and Pernille Koefoed and Palle Pedersen and Nielsen, {Finn Cilius} and Hans Eiberg",

note = "Keywords: Adolescent; Adult; Aged; Denmark; Female; Gene Frequency; Genotype; Hemochromatosis; Heterozygote; Histocompatibility Antigens Class I; Homozygote; Humans; Male; Membrane Proteins; Middle Aged; Mutation; Phenotype",

year = "2003",

language = "English",

volume = "71",

pages = "403--7",

journal = "European Journal of Haematology",

issn = "0902-4441",

publisher = "Wiley-Blackwell",

number = "6",

}

TY - JOUR

T1 - Frequency of the HFE C282Y and H63D mutations in Danish patients with clinical haemochromatosis initially diagnosed by phenotypic methods

AU - Milman, Nils

AU - Koefoed, Pernille

AU - Pedersen, Palle

AU - Nielsen, Finn Cilius

AU - Eiberg, Hans

N1 - Keywords: Adolescent; Adult; Aged; Denmark; Female; Gene Frequency; Genotype; Hemochromatosis; Heterozygote; Histocompatibility Antigens Class I; Homozygote; Humans; Male; Membrane Proteins; Middle Aged; Mutation; Phenotype

PY - 2003

Y1 - 2003

N2 - AIM: To assess the frequency of the C282Y and H63D mutations on the HFE gene in Danish patients with clinical hereditary haemochromatosis initially diagnosed by phenotypic methods. METHODS: In the period 1950-1985, an epidemiological survey in Denmark identified 179 patients with clinical idiopathic haemochromatosis diagnosed by phenotypic methods (serum transferrin saturation, serum ferritin, liver biopsy and mobilisable body iron stores). In 32 unrelated patients, frozen blood samples were available for genetic analysis. In a subsequent series of 26 unrelated Danish patients, a phenotypic diagnosis of clinical idiopathic haemochromatosis was made before blood samples were taken for HFE genotyping. The total series consisted of 58 patients (40 men and 18 women) with a median age of 60 yrs (range 18-74). HFE genotyping was performed by the polymerase chain reaction (PCR) technique. RESULTS: Among the patients, 55 of 58 (94.8%) were C282Y/C282Y homozygous. One 63-year-old woman (1.7%) was compound C282Y/H63D heterozygous. Two women (3.4%), aged 42 and 43 yrs were negative for both the C282Y and the H63D mutation. CONCLUSION: In the Danish population, homozygosity for the C282Y mutation appears to be the prevailing cause of clinically overt genetic haemochromatosis. This finding has implications both for the evaluation of patients with iron overload disorders and for the strategy in future population screening surveys.

AB - AIM: To assess the frequency of the C282Y and H63D mutations on the HFE gene in Danish patients with clinical hereditary haemochromatosis initially diagnosed by phenotypic methods. METHODS: In the period 1950-1985, an epidemiological survey in Denmark identified 179 patients with clinical idiopathic haemochromatosis diagnosed by phenotypic methods (serum transferrin saturation, serum ferritin, liver biopsy and mobilisable body iron stores). In 32 unrelated patients, frozen blood samples were available for genetic analysis. In a subsequent series of 26 unrelated Danish patients, a phenotypic diagnosis of clinical idiopathic haemochromatosis was made before blood samples were taken for HFE genotyping. The total series consisted of 58 patients (40 men and 18 women) with a median age of 60 yrs (range 18-74). HFE genotyping was performed by the polymerase chain reaction (PCR) technique. RESULTS: Among the patients, 55 of 58 (94.8%) were C282Y/C282Y homozygous. One 63-year-old woman (1.7%) was compound C282Y/H63D heterozygous. Two women (3.4%), aged 42 and 43 yrs were negative for both the C282Y and the H63D mutation. CONCLUSION: In the Danish population, homozygosity for the C282Y mutation appears to be the prevailing cause of clinically overt genetic haemochromatosis. This finding has implications both for the evaluation of patients with iron overload disorders and for the strategy in future population screening surveys.

M3 - Journal article

C2 - 14703688

SN - 0902-4441

VL - 71

SP - 403

EP - 407

JO - European Journal of Haematology

JF - European Journal of Haematology

IS - 6

ER -