Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis

• Main Author: Silva Fonseca, Paula Fernanda
• Publication Date: 2018
• Other Authors: Cancado, Rodolfo Delfini, Naoum, Flavio Augusto, Dinardo, Carla Luana, Hencklain Fonseca, Guilherme Henrique, Menosi Gualandro, Sandra Fatima, Krieger, Jose Eduardo, Pereira, Alexandre Costa, Brissot, Pierre, Junior Lima Santos, Paulo Caleb [UNIFESP]
• Format: Article
• Language: eng
• Source: Repositório Institucional da UNIFESP
• Download full: https://repositorio.unifesp.br/handle/11600/54273; http://dx.doi.org/10.1186/s12881-017-0513-5
• topic: Hereditary hemochromatosis; Quality of life; Short form health survey; SF-36

Background: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). In addition, different genotypes are identified as results of genetic tests in patients with suspected primary iron overload. In the present study, our aim was to evaluate whether domains of QL are different according to genotypic groups in patients suspected of HH. Methods: Seventy-nine patients with primary iron overload were included and two genotypic groups were formed (group 1: homozygous genotype for the HFE p.Cys282Tyr mutation