Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin
Dariusz K. Moczulski, Władysław Grzeszczak, Barbara GawlikMed Sci Monit 2001; 7(3): EP441-443 :: ID: 510158
Abstract
Background: Hereditary hemochromatosis is one of the most common monogenic diseases among Caucasians. The most frequent mutation causing hemochromatosis is C282Y in the HFE gene, the highest frequency of which has been observed in populations of Celtic origin. There are no studies providing information about the frequency of the C282Y and H63D mutations in the HFE gene in populations of Slavic origin.
Material/Methods: We collected 871 healthy unrelated subjects in Poland to assess the relevant frequencies. Each subject was genotyped for the C282Y and H63D mutations using a PCR-based protocol.
Results: Among the analysed subjects 6.0% were CY heterozygotes, and only one person was YY homozygote. The observed frequency of the 282Y allele was 3.1%. The frequency of the D allele of the H63D polymorphism was 16.2 %. There were 13 (1.5%) compound heterozygotes for C282Y and H63D found in the analysed group.
Conclusions: The high frequency of the Y allele in this Polish population of non-Celtic origin may indicate an early introduction of this mutation through admixture with a strong positive selection.
Keywords: Hemochromatosis, Mutation, Prevalence
Editorial
01 April 2025 : Editorial
Editorial: Rapid Testing for the Avian Influenza A(H5N1) Virus is Urgently Required as Infections in Poultry and Dairy Cows are on the Rise, and so is Transmission to HumansDOI: 10.12659/MSM.949109
Med Sci Monit 2025; 31:e949109
In Press
Clinical Research
Serum Prolidase and Ischemia-Modified Albumin Levels in Neural Tube Defects: A Comparative Study of Myelome...Med Sci Monit In Press; DOI: 10.12659/MSM.947873
Clinical Research
Impact of Depression, Fatigue, and Pain on Quality of Life in Slovak Multiple Sclerosis PatientsMed Sci Monit In Press; DOI: 10.12659/MSM.947630
Clinical Research
Longitudinal Evaluation of Metabolic Benefits of Inactivated COVID-19 Vaccination in Diabetic Patients in T...Med Sci Monit In Press; DOI: 10.12659/MSM.947450
Clinical Research
Impact of Voltage Level on Hospitalization and Mortality in Electrical Injury Cases: A Retrospective Analys...Med Sci Monit In Press; DOI: 10.12659/MSM.947675
Most Viewed Current Articles
17 Jan 2024 : Review article 8,000,435
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
16 May 2023 : Clinical Research 702,963
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387
01 Mar 2024 : Editorial 30,040
Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and ...DOI :10.12659/MSM.944204
Med Sci Monit 2024; 30:e944204
28 Jan 2024 : Review article 23,978
A Review of IgA Vasculitis (Henoch-Schönlein Purpura) Past, Present, and FutureDOI :10.12659/MSM.943912
Med Sci Monit 2024; 30:e943912