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- Title
Novel homozygote variant in the HJV gene leading to juvenile hemochromatosis: a case report.
- Authors
Ghanadi, Koruosh; Mahmoudvand, Golnaz; Rouzbahani, Arian Karimi
- 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.
- Subjects
IRAN; HYPOGONADISM; PHYSICAL diagnosis; DIGOXIN; SPIRONOLACTONE; FUROSEMIDE; HEMOCHROMATOSIS; GENETIC mutation; GENETIC disorders; GENETIC testing; PANTOPRAZOLE; ASCITES; ADRENERGIC beta blockers; CARVEDILOL; METRONIDAZOLE; GENOMICS; CAPTOPRIL; IRON overload; HEART failure
- Publication
Gastroenterology & Hepatology from Bed to Bench, 2023, Vol 16, Issue 4, p441
- ISSN
2008-2258
- Publication type
Article
- DOI
10.22037/ghfbb.v16i4.2721