Oliver M, Scully L, Guiraudon C, Adams P C
Department of Medicine, University of Western Ontario, London, Canada.
Dig Dis Sci. 1995 Jul;40(7):1589-91. doi: 10.1007/BF02285215.
A 55 year-old Chinese woman is described with severe iron overload similar in degree and distribution to that seen in hereditary hemochromatosis in the Caucasian population. Autopsy findings confirmed severe iron overload in the liver, pancreas, skin, heart, and endocrine organs. Hepatic iron concentration was 482 mumol/g with a hepatic iron index of 8.8. There was no history of thalassemia, transfusions, or alcohol abuse. Pedigree analysis revealed two HLA identical brothers that had no clinical or biochemical evidence of iron overload. This case is an unusual example of severe iron overload in a non-Caucasian kindred and may represent a non-HLA-linked form of iron overload.
本文描述了一位55岁的中国女性，其铁过载严重，程度和分布与高加索人群中遗传性血色素沉着症所见相似。尸检结果证实肝脏、胰腺、皮肤、心脏和内分泌器官存在严重铁过载。肝铁浓度为482 μmol/g，肝铁指数为8.8。患者无地中海贫血、输血或酗酒史。家系分析显示，有两个HLA相同的兄弟，他们没有铁过载的临床或生化证据。该病例是非高加索人种严重铁过载的罕见实例，可能代表一种与HLA无关的铁过载形式。
