AbstractHereditary Hemochromatosis is a disorder characterized by iron deposition in
several organs and hyperferritinemia. The most studied variants are linked to
theHFEgene. In Brazil, surveys that characterize this
population are scarce, with no sampling in the state of Rio Grande do Sul. Our
objective is to carry out a data collection focusing on the profile of this
population and the influence of the most frequentlyHFEvariants. Two centers were enrolled: Hospital de Clínicas de Porto Alegre and
Hospital São Vicente de Paulo. Patients with hyperferritinemia and undergoing
phlebotomy were invited. Clinical data were collected, includingHFEinvestigation. Among the descriptive data, the allele
frequency of the C282Y variant (0.252) stands out, which differs from the
national scenario. Systemic arterial hypertension was the most cited
comorbidity. Differences between centers were observed, highlighting higher
frequency of H63D cases in HSVP (p<0.01). Genotypes were stratified according
to deleterious effect of C282Y variant. Higher transferrin saturation and number
of phlebotomies were observed in the C282Y/C282Y cases (p<0.001). Positive
family history for hyperferritinemia was more prevalent in compound
heterozygotes (p<0.01). The results presented confirm the importance of
encouraging such studies and reiterate the need for greater attention to this
population.