title: Does rapidly progressive iron overload in a young girl with sideroblastic anemia also signify the presence of hereditary hemochromatosis?
abstract: A severely anemic 3-year-old girl with refractory sideroblastic anemia and fulminant, fatal hemochromatosis is described. The patient had transfusion-dependent anemia with clinical cardiac, liver, and endocrine dysfunction that resulted from iron loading. The patient was minimally transfused, and deferoxamine chelation was started at age 34 months. Despite treatment, the patient died at age 46 months as a result of severe iron overload. Sideroblastic anemia and iron overload in childhood are reviewed, and a pathophysiologic mechanism for the patient's clinical course is postulated.
authors.affiliation: Division of Pediatric Hematology/Oncology, North Shore University Hospital, Cornell University Medical College, Manhasset, New York 11030.
authors.forename: P G
authors.initials: PG
authors.lastname: Scimeca
authors.forename: M E
authors.initials: ME
authors.lastname: Weinblatt
authors.forename: E
authors.initials: E
authors.lastname: Kahn
authors.forename: J A
authors.initials: JA
authors.lastname: Kochen
mesh_terms: D000756:Anemia, Sideroblastic / Q000097:blood / Q000150:complications / Q000473:pathology / Q000628:therapy*; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D006432:Hemochromatosis / Q000097:blood / Q000150:complications / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007501:Iron / Q000097:blood*; D013997:Time Factors
chemical_list: D007501:Iron