Tags

Type your tag names separated by a space and hit enter

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.
Virchows Arch. 2001 Jul; 439(1):1-5.VA

Abstract

BACKGROUND AND AIMS

Patients with porphyria cutanea tarda (PCT) have a susceptibility to reversible inactivation of hepatocyte uroporphyrinogen decarboxylase, which can be triggered by alcohol, hepatitis C virus, and other agents. Inherited factors that may predispose to PCT include the C282Y mutation in the hemochromatosis (HFE) gene.

METHODS

We analyzed the hemochromatosis mutations C282Y and H63D in liver biopsies and serum samples of 190 German patients (mean age 48+/-12.5 years) with sporadic PCT. The hepatic iron concentration was determined within the liver tissue. Age-matched healthy blood donors (115 donors) served as controls.

RESULTS

The C282Y and H63D mutations were found in 75 (39%) and 85 (45%) of 190 patients with PCT, respectively. Twenty-two patients (12%) were homozygous for the C282Y mutation, and eighteen patients (9%) were compound heterozygotes, displaying both the C282Y and the H63D mutation. Within the control group, 3 of 115 patients were heterozygous for C282Y (3%) and 12 for H63D (10%). Serum and hepatic iron, ferritin, transferrin saturation, or liver enzymes did not differ significantly between patients with or without HFE mutations.

CONCLUSIONS

The high frequency of homo- and heterozygosity for the C282Y and H63D alleles strongly suggests that these mutations are important predisposing factors for PCT in German patients.

Authors+Show Affiliations

Institute of Pathology, University of Leipzig, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

11499833

Citation

Tannapfel, A, et al. "C282Y and H63D Mutation of the Hemochromatosis Gene in German Porphyria Cutanea Tarda Patients." Virchows Archiv : an International Journal of Pathology, vol. 439, no. 1, 2001, pp. 1-5.
Tannapfel A, Stölzel U, Köstler E, et al. C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients. Virchows Arch. 2001;439(1):1-5.
Tannapfel, A., Stölzel, U., Köstler, E., Melz, S., Richter, M., Keim, V., Schuppan, D., & Wittekind, C. (2001). C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients. Virchows Archiv : an International Journal of Pathology, 439(1), 1-5.
Tannapfel A, et al. C282Y and H63D Mutation of the Hemochromatosis Gene in German Porphyria Cutanea Tarda Patients. Virchows Arch. 2001;439(1):1-5. PubMed PMID: 11499833.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients. AU - Tannapfel,A, AU - Stölzel,U, AU - Köstler,E, AU - Melz,S, AU - Richter,M, AU - Keim,V, AU - Schuppan,D, AU - Wittekind,C, PY - 2001/8/14/pubmed PY - 2001/8/24/medline PY - 2001/8/14/entrez SP - 1 EP - 5 JF - Virchows Archiv : an international journal of pathology JO - Virchows Arch. VL - 439 IS - 1 N2 - BACKGROUND AND AIMS: Patients with porphyria cutanea tarda (PCT) have a susceptibility to reversible inactivation of hepatocyte uroporphyrinogen decarboxylase, which can be triggered by alcohol, hepatitis C virus, and other agents. Inherited factors that may predispose to PCT include the C282Y mutation in the hemochromatosis (HFE) gene. METHODS: We analyzed the hemochromatosis mutations C282Y and H63D in liver biopsies and serum samples of 190 German patients (mean age 48+/-12.5 years) with sporadic PCT. The hepatic iron concentration was determined within the liver tissue. Age-matched healthy blood donors (115 donors) served as controls. RESULTS: The C282Y and H63D mutations were found in 75 (39%) and 85 (45%) of 190 patients with PCT, respectively. Twenty-two patients (12%) were homozygous for the C282Y mutation, and eighteen patients (9%) were compound heterozygotes, displaying both the C282Y and the H63D mutation. Within the control group, 3 of 115 patients were heterozygous for C282Y (3%) and 12 for H63D (10%). Serum and hepatic iron, ferritin, transferrin saturation, or liver enzymes did not differ significantly between patients with or without HFE mutations. CONCLUSIONS: The high frequency of homo- and heterozygosity for the C282Y and H63D alleles strongly suggests that these mutations are important predisposing factors for PCT in German patients. SN - 0945-6317 UR - https://www.unboundmedicine.com/medline/citation/11499833/C282Y_and_H63D_mutation_of_the_hemochromatosis_gene_in_German_porphyria_cutanea_tarda_patients_ L2 - https://dx.doi.org/10.1007/s004280100401 DB - PRIME DP - Unbound Medicine ER -