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Pediatr Blood Cancer ; 58(1): 101-3, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22076832

RESUMO

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.


Assuntos
Hemocromatose/etiologia , Sobrecarga de Ferro/etiologia , Mutação/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Adolescente , Evolução Fatal , Hemocromatose/diagnóstico , Hemocromatose/terapia , Humanos , Sobrecarga de Ferro/diagnóstico , Sobrecarga de Ferro/terapia , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico
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