Mutaciones en el gen HFE y metabolismo del hierro en anemias hereditarias

HARO C; ISSÉ B; ALVAREZ ASENCIO N; LEDESMA ACHEM ME; MÓNACO ME; LAZARTE S; TERAN M

Tafi de Valle

Jornada; XXXV Jornadas Científicas de la Asociación de Biología de Tucumán.; 2018

Asociacion de Biologia de Tucuman

HFE protein (Human hemochromatosis protein) is encoded by HFE gene and participates in the regulation of iron metabolism. The aim of this study was to establish the prevalence of the most frequent mutations in HFE gene in a population with hereditary anemia [beta-thalassemic trait (BTT), hereditary spherocytosis (HS) and hemoglobinopathy S (HbS)] and in healthy subjects and to explore its relationship with iron metabolism. Methods: One hundred and thirty eight individuals were analyzed (68 normal, 64 BTT, 3 HS and 3 HbS) during the period September 2015-May 2018. Red blood count (Sysmex KX-21N), hemoglobin electrophoresis at alkaline pH and HbA2 quantification; erythrocyte osmotic resistance test; serum iron, transferrin, and saturation (Cobas c311, Roche); and ferritin (electrochemiluminescence) were measured. HFE gene mutations were analyzed by real-time PCR. Results: The prevalence in control group was 29% (20/64, 95% CI = 20-41%); 30% (6/20) presented heterozygous mutation in codon 282 (C282Y), and 70% (14/20) in codon 63 (H63D). The prevalence in the BTT group was 31% (20/64, 95% CI = 21-43%). Four carriers (6%) were heterozygous for C282Y, 15 (23%) had H63D mutation, one (2%) was double heterozygous for H63D and C282Y, and 1 (2%) was heterozygous for codon 65 mutation. In HS and HbS groups, only one subject from each group had a heterozygous H63D mutation. Only BTT group with mutation in H63D had higher ferritin levels than the controls with the same mutation (p