01 October 2011
Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosisSandra MilicABDEF, Smiljana RisticACDEF, Nada Starcevic-CizmarevicB, Bojana Brajenovic-MilicC, Marija Crnic-MartinovicB, Miljenko KapovicA, Borut PeterlinA, Davor StimacA
Med Sci Monit 2011; 17(10): CR552-556
Background: Hereditary hemochromatosis (HH) is a common autosomal recessive disorder in populations of European descent. It is characterized by a variable prevalence of mutations in the hemochromatosis gene (HFE) in different countries and a complex relationship between the HFE genotype and the HH phenotype. Genetic analysis has not been conducted in Croatian patients with iron overload. The aim of this study was to determine whether HFE mutations, C282Y, H63D, and S65C were correlated with clinical and biochemical parameters in Croatian patients with suspected HH.
Material/Methods: Clinical examination, biochemical analysis, and genotyping were performed in 175 patients suspected of having HH. The control group consisted of 350 healthy blood donors.
Results: Among the patients, 20% had genotypes related to HH – 7.4% were homozygous for C282Y, 6.3% were compound heterozygous for C282Y and H63D, 5.7% were homozygous for H63D, and 0.6% was compound heterozygous for C282Y and S65C. The allelic frequencies were 14.6% for C282Y mutation, 23.7% for H63D mutation, and 1.4% for S65C mutation. A comparison of the clinical and laboratory profiles of patients revealed that C282Y homozygotes had higher frequencies of all clinical symptoms and higher levels of biochemical parameters than others. The C282Y/H63D compound heterozygotes and H63D homozygotes were found to be clinically important, despite the fact that they were associated with less severe disease.
Conclusions: Our results show that HFE mutations are responsible for only about 20% of Croatian patients with suspected HH. Screening with biochemical methods and HFE genotyping may be not sufficient for diagnoses in the Croatian population.
Keywords: Mutation, Missense - genetics, Nephelometry and Turbidimetry, Membrane Proteins - genetics, Histocompatibility Antigens Class I - genetics, Hemochromatosis - genetics, Genotype, Gene Frequency, Croatia, Blood Chemical Analysis, Analysis of Variance, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Questionnaires
01 June 2023 : EditorialEditorial: Infectious Disease Surveillance Using Artificial Intelligence (AI) and its Role in Epidemic and Pandemic Preparedness
Med Sci Monit 2023; 29:e941209
08 Jun 2023 : Clinical ResearchRisk Factors for New Vertebral Compression Fracture After Percutaneous Vertebral Augmentation: A Retrospect...
Med Sci Monit In Press; DOI: 10.12659/MSM.940134
08 Jun 2023 : Clinical ResearchA Nomogram for Identifying HR+/Her2- Breast Cancer Patients with Positive Sentinel Lymph Nodes and Omitted ...
Med Sci Monit In Press; DOI: 10.12659/MSM.940124
08 Jun 2023 : Clinical ResearchBurden of COVID-19 on Mental Health of Resident Doctors in Poland
Med Sci Monit In Press; DOI: 10.12659/MSM.940208
08 Jun 2023 : Clinical ResearchRisk Prediction for Rapidly Progressive Interstitial Lung Disease in Anti-MDA5-Positive Dermatomyositis: Th...
Med Sci Monit In Press; DOI: 10.12659/MSM.940251
Most Viewed Current Articles
13 Nov 2021 : Clinical ResearchAcceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...
Med Sci Monit 2021; 27:e932788
30 Dec 2021 : Clinical ResearchRetrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...
Med Sci Monit 2021; 27:e935379
08 Mar 2022 : Review articleA Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...
Med Sci Monit 2022; 28:e936292
01 Jan 2022 : EditorialEditorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...
Med Sci Monit 2022; 28:e935952