title: Therapeutic complications in a patient with high-risk acute lymphoblastic leukemia and undiagnosed hereditary hemochromatosis.
abstract: Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of iron metabolism that most commonly manifests in the fourth or fifth decade of life. Here, we describe a 14-year-old male who presented with high-risk acute lymphoblastic leukemia and previously undiagnosed HH. His treatment course was remarkable for significant therapeutic complications, including iron overload, hepatic failure, cardiac dysfunction, and death. Postmortem testing revealed homozygosity for the C282Y mutation, confirming the diagnosis of HH. Since HH mutations occur commonly in select populations, screening patients with leukemia for HH may better inform treatment decisions regarding chemotherapy, transfusions, and/or iron chelation therapy.
authors.affiliation: Division of Pediatric Hematology/Oncology, Department of Pediatrics, Stanford School of Medicine, Stanford, California 94304, USA. balagtas@stanford.edu
authors.forename: Jay Michael S
authors.initials: JM
authors.lastname: Balagtas
authors.forename: Gary V
authors.initials: GV
authors.lastname: Dahl
mesh_terms: D000293:Adolescent; D017809:Fatal Outcome; D006432:Hemochromatosis / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D019190:Iron Overload / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D008297:Male; D009154:Mutation / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*