Pg. Scimeca et al., DOES RAPIDLY PROGRESSIVE IRON OVERLOAD IN A YOUNG GIRL WITH SIDEROBLASTIC ANEMIA ALSO SIGNIFY THE PRESENCE OF HEREDITARY HEMOCHROMATOSIS, Pediatric hematology and oncology, 11(1), 1994, pp. 99-104
A severely anemic 3-year-old girl with refractory sideroblastic anemia
and fulminant, fatal hemochromatosis is described. The patient had tr
ansfusion-dependent anemia with clinical cardiac, liver, and endocrine
dysfunction that resulted from iron loading. The patient was minimall
y transfused, and deferoxamine chelation was started at age 34 months.
Despite treatment, the patient died at age 46 months as a result Of s
evere iron overload. Sideroblastic anemia and iron overload in childho
od are reviewed, and a pathophysiologic mechanism for the patient's cl
inical course is postulated.