Frequency of the mutations C282Y and H63D of the HFE gene in patients diagnosed with deficiency of Alpha-1-Antitrypsin

Abstract

Introduction: Due to the high frequency of C282Y and H63D mutations in the HFE gene, promoter type 1 hemochromatosis, and mutations S or Z causing the deficiency of alpha-1-antitrypsin (def-A1AT), studies have shown their coexistence in several patients. As a result, many scientists consider mutations in the HFE gene as a possible contributor to the development of hepatic events in patients with A1AT-def.
Objective: To determine the frequency of C268Y and H63D mutations in patients with liver disease and presumptive diagnosis of A1AT-def.
Materials and methods: We conducted a descriptive study that involved 65 patients with liver disease who were referred to the Molecular Biology Laboratory of the National Center of Medical Genetics for the molecular diagnosis of S and Z mutations of the gene for alpha-1 antitrypsin. We used the polymerase chain reaction method with polymorphisms in the sizes of the restriction fragments (PCR-RFLP).
Results: The frequency of C282Y and H63D mutations of the HFE gene in patients with presumptive diagnosis of deficiency of alpha-1 antitrypsin was 5.3% and 17% respectively.
Conclusions: this study showed that the frequency of these two mutations in Cuban population is high. We also observed that both of them, even in heterozygous state, seem to play a main role in the development of different diseases.