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Clinicopathological diagnosis and treatment of juvenile hemochromatosis

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His serum ferritin concentration was 8729.2 ng/mL, with a To the Editor:Hereditary hemochromatosis (HH) is a lateonset autonomic disease characterized by enhanced transferrin saturation of 112.4%. intestinal absorption of iron… Click to show full abstract

His serum ferritin concentration was 8729.2 ng/mL, with a To the Editor:Hereditary hemochromatosis (HH) is a lateonset autonomic disease characterized by enhanced transferrin saturation of 112.4%. intestinal absorption of iron and iron overload, which may lead to liver cirrhosis, cardiomyopathy, diabetes, arthritis, and skin pigmentation. In 1996, Feder et al cloned the gene responsible for HH (HFE) and reported that 85% of HH patients were homozygous for theC282Y mutation in the HFE gene. This was subsequently termed type 1 HH. Other inherited forms of HH exist that are non HFE-related, an example of which is juvenile hemochromatosis (JH); two genotypes that induce JH have been reported thus far. One JH genotype involves the hemojuvelin gene (HJV), which was cloned from a Greek family with JH by Papanikolaou et al and is known as type 2A HH. The other involves the human antimicrobial peptide (HAMP) gene, which encodes hepcidin and is termed type 2B HH.

Keywords: diagnosis treatment; juvenile hemochromatosis; hemochromatosis; gene; treatment juvenile; clinicopathological diagnosis

Journal Title: Chinese Medical Journal
Year Published: 2019

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