Fonseca Paula Fernanda Silva, Cançado Rodolfo Delfini, Naoum Flavio Augusto, Dinardo Carla Luana, Fonseca Guilherme Henrique Hencklain, Gualandro Sandra Fatima Menosi, Krieger José Eduardo, Pereira Alexandre Costa, Brissot Pierre, Santos Paulo Caleb Junior Lima
Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School, Av. Doutor Enéas de Carvalho Aguiar, 44-Cerqueira César, São Paulo, 05403 900, Brazil.
Hematology and Hemotherapy Section, Santa Casa Medical School, São Paulo, Brazil.
BMC Med Genet. 2018 Jan 5;19(1):3. doi: 10.1186/s12881-017-0513-5.
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.
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; group 2: other genotypes).
Group 1 had higher means of plasma transferrin saturation (86 ± 19%) and serum ferritin (1669 ± 1209 ng/mL) compared to group 2 (71 ± 12%, 1252 ± 750 ng/mL, respectively; p = 0.001). Four domains were significantly different among groups 1 and 2: physical functioning (p = 0.03), bodily pain (p = 0.03), vitality (p = 0.02) and social functioning (p = 0.01).
Our main finding was that patients with p.Cys282Tyr homozygosity had a worse QL scenario assessed by SF-36, compared with patients with iron overload without the same genotype. Being aware of this relationship between genotypes and QL might be helpful in the overall management of patients suspected of hereditary hemochromatosis.
遗传性血色素沉着症（HH）是一组常染色体隐性疾病，主要特征是肠道铁吸收增强及其在实质器官中的蓄积。HH的诊断基于铁生化和磁共振成像（MRI）评估以及基因检测。问卷，如SF-36（简短健康调查问卷），已越来越多地用于评估疾病对患者生活质量（QL）的影响。此外，在疑似原发性铁过载患者的基因检测结果中鉴定出了不同的基因型。在本研究中，我们的目的是评估疑似HH患者的QL领域是否因基因型组而异。
纳入79例原发性铁过载患者，并形成两个基因型组（组1：HFE p.Cys282Tyr突变的纯合基因型；组2：其他基因型）。
与组2（分别为71±12%，1252±750 ng/mL）相比，组1的血浆转铁蛋白饱和度（86±19%）和血清铁蛋白（1669±1209 ng/mL）均值更高（p = 0.001）。组1和组2之间有四个领域存在显著差异：身体功能（p = 0.03）、身体疼痛（p = 0.03）、活力（p = 0.02）和社会功能（p = 0.01）。
我们的主要发现是，与没有相同基因型的铁过载患者相比，p.Cys282Tyr纯合子患者通过SF-36评估的QL情况更差。了解基因型与QL之间的这种关系可能有助于对疑似遗传性血色素沉着症患者的整体管理。
