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HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping

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@article{e5f0e5488acc41518fde9ad17e6d882a,
title = "HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping",
abstract = "Analysis of the common C282Y and H63D mutations in the HFE gene is widely used to diagnose hereditary hemochromatosis (HH). The aim of this study was to evaluate the efficiency with which different hospitals and general practitioners select patients for HH genotype and to determine the distribution of HFE mutations in such patients. Nine hundred unrelated patients from Danish hospitals and general practitioners (group A) and 69 consecutive patients from a specialized liver unit (group B) were examined for HFE substitutions using multiplex real-time polymerase chain reaction. In group A we found 13.0{\%} (0{\%}) C282Y homozygotes, 5.8{\%} (2.6{\%}) H63D/C282Y compound heterozygotes and 1.9{\%} (3.1{\%}) S65C heterozygotes. The values for 420 Danish blood donors are shown in parentheses. The distribution of genotypes in group B was similar to that of the blood donors. Serum ferritin, transferrin iron saturation and pathological data were collected from 38 randomly selected C282Y homozygotes, 36 H63D/C282Y compound heterozygotes, 19 H63D heterozygotes, 17 S65C heterozygotes and 144 wild-types. All of the C282Y homozygotes and 28{\%} of the compound heterozygotes were diagnosed as HH patients. There was no evidence of HH in the H63D homozygotes or S65C heterozygotes. Moreover, 7 wild-type patients, 2 C282Y heterozygote patients and one H63D heterozygote patient fulfilled the criteria for HH. The significant enrichment of HH among associated genotype samples submitted for HFE testing indicates that the clinical selection is generally adequate. However, the study showed substantial deviation in the selection efficiency among the various hospitals and general practitioners.",
keywords = "Blood Donors, DNA, DNA Primers, Denmark, Female, Ferritins, Genotype, Hemochromatosis, Hemochromatosis Protein, Histocompatibility Antigens Class I, Humans, Male, Membrane Proteins, Middle Aged, Oligonucleotide Probes, Point Mutation, Reverse Transcriptase Polymerase Chain Reaction, Journal Article, Research Support, Non-U.S. Gov't",
author = "P Koefoed and K Dalhoff and J Dissing and I Kramer and N Milman and P Pedersen and K Simonsen and N Tygstrup and Nielsen, {F C}",
year = "2002",
language = "English",
volume = "62",
pages = "527--35",
journal = "Scandinavian Journal of Clinical and Laboratory Investigation",
issn = "0036-5513",
publisher = "Informa Healthcare",
number = "7",

}

RIS

TY - JOUR

T1 - HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping

AU - Koefoed, P

AU - Dalhoff, K

AU - Dissing, J

AU - Kramer, I

AU - Milman, N

AU - Pedersen, P

AU - Simonsen, K

AU - Tygstrup, N

AU - Nielsen, F C

PY - 2002

Y1 - 2002

N2 - Analysis of the common C282Y and H63D mutations in the HFE gene is widely used to diagnose hereditary hemochromatosis (HH). The aim of this study was to evaluate the efficiency with which different hospitals and general practitioners select patients for HH genotype and to determine the distribution of HFE mutations in such patients. Nine hundred unrelated patients from Danish hospitals and general practitioners (group A) and 69 consecutive patients from a specialized liver unit (group B) were examined for HFE substitutions using multiplex real-time polymerase chain reaction. In group A we found 13.0% (0%) C282Y homozygotes, 5.8% (2.6%) H63D/C282Y compound heterozygotes and 1.9% (3.1%) S65C heterozygotes. The values for 420 Danish blood donors are shown in parentheses. The distribution of genotypes in group B was similar to that of the blood donors. Serum ferritin, transferrin iron saturation and pathological data were collected from 38 randomly selected C282Y homozygotes, 36 H63D/C282Y compound heterozygotes, 19 H63D heterozygotes, 17 S65C heterozygotes and 144 wild-types. All of the C282Y homozygotes and 28% of the compound heterozygotes were diagnosed as HH patients. There was no evidence of HH in the H63D homozygotes or S65C heterozygotes. Moreover, 7 wild-type patients, 2 C282Y heterozygote patients and one H63D heterozygote patient fulfilled the criteria for HH. The significant enrichment of HH among associated genotype samples submitted for HFE testing indicates that the clinical selection is generally adequate. However, the study showed substantial deviation in the selection efficiency among the various hospitals and general practitioners.

AB - Analysis of the common C282Y and H63D mutations in the HFE gene is widely used to diagnose hereditary hemochromatosis (HH). The aim of this study was to evaluate the efficiency with which different hospitals and general practitioners select patients for HH genotype and to determine the distribution of HFE mutations in such patients. Nine hundred unrelated patients from Danish hospitals and general practitioners (group A) and 69 consecutive patients from a specialized liver unit (group B) were examined for HFE substitutions using multiplex real-time polymerase chain reaction. In group A we found 13.0% (0%) C282Y homozygotes, 5.8% (2.6%) H63D/C282Y compound heterozygotes and 1.9% (3.1%) S65C heterozygotes. The values for 420 Danish blood donors are shown in parentheses. The distribution of genotypes in group B was similar to that of the blood donors. Serum ferritin, transferrin iron saturation and pathological data were collected from 38 randomly selected C282Y homozygotes, 36 H63D/C282Y compound heterozygotes, 19 H63D heterozygotes, 17 S65C heterozygotes and 144 wild-types. All of the C282Y homozygotes and 28% of the compound heterozygotes were diagnosed as HH patients. There was no evidence of HH in the H63D homozygotes or S65C heterozygotes. Moreover, 7 wild-type patients, 2 C282Y heterozygote patients and one H63D heterozygote patient fulfilled the criteria for HH. The significant enrichment of HH among associated genotype samples submitted for HFE testing indicates that the clinical selection is generally adequate. However, the study showed substantial deviation in the selection efficiency among the various hospitals and general practitioners.

KW - Blood Donors

KW - DNA

KW - DNA Primers

KW - Denmark

KW - Female

KW - Ferritins

KW - Genotype

KW - Hemochromatosis

KW - Hemochromatosis Protein

KW - Histocompatibility Antigens Class I

KW - Humans

KW - Male

KW - Membrane Proteins

KW - Middle Aged

KW - Oligonucleotide Probes

KW - Point Mutation

KW - Reverse Transcriptase Polymerase Chain Reaction

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

M3 - Journal article

VL - 62

SP - 527

EP - 535

JO - Scandinavian Journal of Clinical and Laboratory Investigation

JF - Scandinavian Journal of Clinical and Laboratory Investigation

SN - 0036-5513

IS - 7

ER -

ID: 49582910