ArticleGastroenterology and hepatology from bed to bench2023
Novel homozygote variant in the HJV gene leading to juvenile hemochromatosis: a case report.
Article in Gastroenterology and hepatology from bed to bench, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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