HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping
| Autor: | Niels Tygstrup, J Dissing, I. Kramer, K Simonsen, P Pedersen, N Milman, Pernille Koefoed, K. Dalhoff, Finn Cilius Nielsen |
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| Rok vydání: | 2002 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pathology Genotype Denmark Clinical Biochemistry Blood Donors Compound heterozygosity Group A Gastroenterology Group B Internal medicine medicine Humans Point Mutation Hemochromatosis Protein Genotyping Hemochromatosis DNA Primers Reverse Transcriptase Polymerase Chain Reaction business.industry Histocompatibility Antigens Class I Membrane Proteins nutritional and metabolic diseases Heterozygote advantage DNA General Medicine Middle Aged medicine.disease Hereditary hemochromatosis Ferritins Female Oligonucleotide Probes business |
| Zdroj: | Scandinavian Journal of Clinical and Laboratory Investigation. 62:527-535 |
| ISSN: | 1502-7686 0036-5513 |
| DOI: | 10.1080/003655102321004549 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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