Novel homozygote variant in the HJV gene leading to juvenile hemochromatosis: a case report

Ghanadi, Koruosh and Mahmoudvand, Golnaz and Karimi Rouzbahani, Arian (2023) Novel homozygote variant in the HJV gene leading to juvenile hemochromatosis: a case report. Gastroenterology and Hepatology From Bed to Bench.

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Abstract

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. Keywords: Familial hemochromatosis; Genetic hemochromatosis; Hemochromatosis; Iron overload.

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