Prevalência de hemocromatose hereditária em pacientes submetidos à sangria terapêutica

Abstract

Hemachromatosis is a disease caused by iron accumulation in the tissues, whose frequency is little known in Brazil. In the confirmed cases, periodical phlebotomy (removing blood from the body) is the indicated treatment. A historical cohort was carried out with the aim to evaluate HH incidence among the subjects who underwent phlebotomy between 2011 and 2014. From the 222 subjects included in the study 189 (85.1%) presented hemochromatosis, and, among them 89 (47.1%) were hereditary. The group of patients with HH was composed of 71 male ones (79.72%), average age 0f 51,5 ± 10,65years old, symptomatic 36 (40.0%); 65 (78.3%) were positive for HFE mutation, 43 (65.15%) for H63D, 26 (37.87%) for gene C282Y and 3 (4.54%) for S65C. It was observed that the initial basal saturation values of transferrin index (TSI) were significantly increased among patients with primary hemochromatosis when compared to those with secondary hemochromatosis p=0,001. The prevalence of mutation C282Y in this studied population was higher than if compared to that described for Brazilian population, and inferior to the North of Europe population. Other gens than C282Y were associated to the end-organ damage. The IST was the fundamental tool for the diagnosis of HH, although a late diagnosis was found due to the advanced stage