Parsons S K, Fleming M D, Nathan D G, Andrews N C
a Division of Hematology/Oncology , Children's Hospital and Dana-Farber Cancer Institute Department of Pediatrics, Harvard Medical School , Boston , MA.
b Department of Pathology , Brigham and Women's Hospital , Boston , MA.
Hematology. 1996;1(1):65-73. doi: 10.1080/10245332.1996.11746287.
For thirty years we have followed two siblings with apparent iron deficiency anemia in the setting of systemic iron overload. This report details their clinical courses, which have been surprisingly disparate. The female sibling has been more severely affected, requiring multiple transfusions. In contrast, the male sibling demonstrated apparent improvement at puberty. Although both have shown evidence of systemic iron overload for many years, neither has had significant end organ toxicity. We discuss the probable pathophysiology of their disorder, drawing from animal models with similar defects in iron uptake and utilization.
三十年来，我们一直在追踪观察两名患有全身性铁过载但有明显缺铁性贫血的兄弟姐妹。本报告详细描述了他们截然不同的临床病程。姐姐受到的影响更严重，需要多次输血。相比之下，弟弟在青春期时症状明显改善。尽管两人多年来都有全身性铁过载的迹象，但均未出现明显的终末器官毒性。我们借鉴了铁摄取和利用存在类似缺陷的动物模型，讨论了他们这种病症可能的病理生理学机制。
