Abstract

CERVERA GARCIA, Ismael A; GARCIA HEREDIA, Marileivis  and  COLLAZO MESA, Teresa. Frequency of the mutations C282Y and H63D of the HFE gene in patients diagnosed with deficiency of Alpha-1-Antitrypsin. Rev.Med.Electrón. [online]. 2016, vol.38, n.3, pp. 361-369. ISSN 1684-1824.

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. Aim: 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.

Keywords : hemochromatosis type 1; deficiency of alpha-1-antitrypsin; molecular diagnosis; mutation C282Y; H63D mutation.

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