HFE haemochromatosis gene mutations in liver transplant patients
| Autor: | Judit Mäkinen, Krister Höckerstedt, Leena Halme, Tiina Heliö, K. Piippo, Martti Färkkilä, Tom Krusius, Kimmo Kontula |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Alcoholic liver disease Pathology Cirrhosis Adolescent medicine.medical_treatment DNA Mutational Analysis 030204 cardiovascular system & hematology Biology Gene mutation Liver transplantation Gastroenterology 03 medical and health sciences Liver disease 0302 clinical medicine HLA Antigens Internal medicine medicine Humans Hemochromatosis Protein Hemochromatosis 030304 developmental biology Aged DNA Primers Hepatitis 0303 health sciences Histocompatibility Antigens Class I nutritional and metabolic diseases Membrane Proteins Middle Aged medicine.disease 3. Good health Liver Transplantation Liver 030220 oncology & carcinogenesis Hereditary hemochromatosis Case-Control Studies Mutation 030211 gastroenterology & hepatology Female |
| Zdroj: | Scandinavian journal of gastroenterology. 36(8) |
| ISSN: | 0036-5521 |
| Popis: | The majority of patients with inherited haemochromatosis carry two mutant alleles of the recently discovered HFE gene. Individuals heterozygous for the HFE mutation could be predisposed to end-stage liver disease due to other causes.The frequencies of the HFE gene mutations C282Y and H63D were determined in DNA samples obtained from 189 liver transplant patients and 225 healthy Finnish blood donors.5% of the 189 liver transplant recipients were heterozygotes and 0.5% homozygotes for the C282Y mutation, while 16% were heterozygotes and 0.5% homozygotes for the H63D mutation. These figures were not increased in comparison to controls, of whom 11% were C282Y heterozygotes, 16% H63D heterozygotes and 0.9% H63D homozygotes. Among recipients with acute non-A-E hepatitis (n = 31), the frequency of the H63D allele was higher than in controls (21% versus 9.1%, P0.01). Perls' stain for iron in explanted liver specimens was positive in 28% of recipients with alcoholic cirrhosis, 26% of patients with acute non-A-E hepatitis and 14% in the rest of the recipients. The HFE genotypes did not correlate with the iron status.Individuals heterozygous for either the C282Y or H63D mutation of the HFE gene are not at increased risk of developing chronic end-stage liver disease. However, subjects heterozygous for the H63D mutation may have an increased risk to develop fulminant non-A-E hepatitis. |
| Databáze: | OpenAIRE |
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