Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports.

摘要: Rationale Hereditary hemochromatosis (HH) is a hereditary disorder of iron metabolism. It classified into 4 main types depending on the underlying genetic mutation: human protein (HFE) (type 1), hemojuvelin (HJV) 2A), HAMP 2B), transferrin receptor-2 (TFER2) 3), and ferroportin 4). Type HH divided 2 subtypes according to different mutations: type 4A (classical disease) 4B (non-classical disease). rare autosomal dominant disease that results from mutations in Solute Carrier Family 40 member 1 (SLC40A1) gene, which encodes transport ferroportin. Patient concerns Here we report elderly Chinese Han men, who were brothers, presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia as well high saturation. Diagnosis Subsequent analyses identified heterozygous mutation (p. Cys326Tyr) SLC40A1 gene both patients. Interventions We treated patient chelator followed up for 3 years. Outcomes Iron helped reduce serum ferritin improve condition target organs, including skin, pancreas, pituitary. Lessons but usually tends cause multiple organ dysfunction even death. For those patients have difficulty tolerating phlebotomy, might be good alternative.