Ghanadi Koruosh, Mahmoudvand Golnaz, Karimi Rouzbahani Arian
Department of Internal Medicine, School of Medicine, Hepatitis Research Center, Lorestan University of Medical Sciences, Khorramabad, Iran.
USERN Office, Lorestan University of Medical Sciences, Khorramabad, Iran.
Gastroenterol Hepatol Bed Bench. 2023;16(4):441-444. doi: 10.22037/ghfbb.v16i4.2721.
Hereditary hemochromatosis (HH) is an autosomal recessive metabolic disorder. Mutations in different encoding genes, mostly HFE, lead to iron overload in different organs of the body. We herein report a case of HH caused by a novel variant in the HFE2 (HJV) gene. A 27-year-old man was admitted to the internal medicine ward of Shahid Rahimi Hospital in Khorramabad, Iran, on 6/6/2018. He first sought medical care for impotence and was diagnosed with increased serum iron. He ceased follow-up and was referred to our center with advanced symptoms of hemochromatosis, including central hypogonadism, heart failure, and ascites. The genetic test revealed that he was homozygote for a variant defined as c.950G>A (p.Cys317Tyr) in exon 4 of the HJV gene. The patient's symptoms improved following medical intervention. At a 4th year follow-up, he was alive and his clinical status was stable.
遗传性血色素沉着症（HH）是一种常染色体隐性代谢紊乱疾病。不同编码基因的突变，主要是HFE基因的突变，会导致身体不同器官的铁过载。我们在此报告一例由HFE2（HJV）基因新变异引起的HH病例。一名27岁男性于2018年6月6日入住伊朗霍拉马巴德市沙希德拉希米医院内科病房。他最初因阳痿就医，被诊断为血清铁升高。他中断了随访，后来因血色素沉着症的晚期症状，包括中枢性性腺功能减退、心力衰竭和腹水，被转诊至我们中心。基因检测显示，他在HJV基因第4外显子上的一个变异（定义为c.950G>A，p.Cys317Tyr）为纯合子。经过医学干预，患者症状有所改善。在第4年的随访中，他仍然存活，临床状况稳定。
