Nagai H, Takazakura E, Oda H, Tsuji H, Terada Y, Makino H, Yamauchi H, Saitoh K
Department of Internal Medicine, Kurobe City Hospital.
Intern Med. 1994 Jan;33(1):56-9. doi: 10.2169/internalmedicine.33.56.
We report an autopsy case of pyruvate kinase deficiency anemia with severe hemochromatosis. This anemia is rarely associated with hemochromatosis. In this case, the autopsy findings showed hemochromatosis of the heart, pancreas, liver, kidneys, thyroid gland, adrenal glands, testes and skin. Microscopic examination showed iron depositions in these organs, but not in the bone marrow. A family study showed negative data for iron overload and no known HLA type suggestive of idiopathic hemochromatosis. To explain this rare association, we suggest that this patient's iron overload was an acquired type, which might have mainly been caused by increased iron absorption due to the severe hemolytic anemia.
我们报告一例丙酮酸激酶缺乏性贫血合并严重血色素沉着症的尸检病例。这种贫血很少与血色素沉着症相关。在该病例中，尸检结果显示心脏、胰腺、肝脏、肾脏、甲状腺、肾上腺、睾丸和皮肤均有血色素沉着症。显微镜检查显示这些器官中有铁沉积，但骨髓中没有。家族研究显示铁过载数据为阴性，且没有已知的提示特发性血色素沉着症的 HLA 类型。为了解释这种罕见的关联，我们认为该患者的铁过载是后天获得性的，可能主要是由严重溶血性贫血导致的铁吸收增加引起的。
