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Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain.
Genet Test. 2004 Fall; 8(3):263-7.GT

Abstract

Hereditary hemochromatosis (HH) is an autosomal recessive disease caused by a defective iron absorption. C282Y is the most frequent HFE gene mutation causing HH in Northern European populations and their descendants. However, two other mutations, H63D and S65C, have been described as pathogenic changes. In this study, we have tried to evaluate the frequency of these three mutations in our community. Eighty-three patients with clinical and/or biochemical features of hemochromatosis and 150 controls were screened for H63D, S65C, and C282Y mutations using a PCR-restriction fragment length polymorphism (RFLP)-based strategy. In contrast to previous studies, 7% of the patients were homozygous for C282Y mutation. The remaining patients were 20% H63D homozygous, 10% H63D/C282Y compound heterozygous, 1% H63D/S65C compound heterozygous, 22% H63D heterozygous, 2% C282Y heterozygous, 2% S65C heterozygous, and 36% of patients lacked any of the three mutations studied, despite the fact that they showed clinical/biochemical features of hemochromatosis. We observed a high frequency of the H63D mutation in both the control group and patients, whereas the main genotypes implicated in HH in our series were H63D homozygous and H63D/C282Y compound heterozygous. We propose that the H63D mutation be analyzed in HH patients from our geographic area. Moreover, further studies are needed to elucidate the role of this mutation in the development of HH and the genetic, environmental or other factors that affect the genotype-phenotype correlation between H63D and hemochromatosis.

Authors+Show Affiliations

Department of Genetics, Hospital Virgen de la Salud, Toledo, Spain. cadedi@sescam.jccm.esNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15727249

Citation

de Diego, Carles, et al. "Frequency of HFE H63D, S65C, and C282Y Mutations in Patients With Iron Overload and Controls From Toledo, Spain." Genetic Testing, vol. 8, no. 3, 2004, pp. 263-7.
de Diego C, Murga MJ, Martínez-Castro P. Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain. Genet Test. 2004;8(3):263-7.
de Diego, C., Murga, M. J., & Martínez-Castro, P. (2004). Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain. Genetic Testing, 8(3), 263-7.
de Diego C, Murga MJ, Martínez-Castro P. Frequency of HFE H63D, S65C, and C282Y Mutations in Patients With Iron Overload and Controls From Toledo, Spain. Genet Test. 2004;8(3):263-7. PubMed PMID: 15727249.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Frequency of HFE H63D, S65C, and C282Y mutations in patients with iron overload and controls from Toledo, Spain. AU - de Diego,Carles, AU - Murga,Maria José, AU - Martínez-Castro,Pedro, PY - 2005/2/25/pubmed PY - 2005/4/2/medline PY - 2005/2/25/entrez SP - 263 EP - 7 JF - Genetic testing JO - Genet Test VL - 8 IS - 3 N2 - Hereditary hemochromatosis (HH) is an autosomal recessive disease caused by a defective iron absorption. C282Y is the most frequent HFE gene mutation causing HH in Northern European populations and their descendants. However, two other mutations, H63D and S65C, have been described as pathogenic changes. In this study, we have tried to evaluate the frequency of these three mutations in our community. Eighty-three patients with clinical and/or biochemical features of hemochromatosis and 150 controls were screened for H63D, S65C, and C282Y mutations using a PCR-restriction fragment length polymorphism (RFLP)-based strategy. In contrast to previous studies, 7% of the patients were homozygous for C282Y mutation. The remaining patients were 20% H63D homozygous, 10% H63D/C282Y compound heterozygous, 1% H63D/S65C compound heterozygous, 22% H63D heterozygous, 2% C282Y heterozygous, 2% S65C heterozygous, and 36% of patients lacked any of the three mutations studied, despite the fact that they showed clinical/biochemical features of hemochromatosis. We observed a high frequency of the H63D mutation in both the control group and patients, whereas the main genotypes implicated in HH in our series were H63D homozygous and H63D/C282Y compound heterozygous. We propose that the H63D mutation be analyzed in HH patients from our geographic area. Moreover, further studies are needed to elucidate the role of this mutation in the development of HH and the genetic, environmental or other factors that affect the genotype-phenotype correlation between H63D and hemochromatosis. SN - 1090-6576 UR - https://www.unboundmedicine.com/medline/citation/15727249/Frequency_of_HFE_H63D_S65C_and_C282Y_mutations_in_patients_with_iron_overload_and_controls_from_Toledo_Spain_ L2 - https://www.liebertpub.com/doi/10.1089/gte.2004.8.263?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -