Kremer Hovinga Johanna A, Solenthaler Max, Dufour Jean-François
Central Haematology Laboratory, Inselspital, University of Bern, Switzerland.
Eur J Gastroenterol Hepatol. 2003 Oct;15(10):1141-7. doi: 10.1097/00042737-200310000-00014.
We describe two patients with severe iron overload in the context of congenital dyserythropoietic anaemia (CDA) type II, which is characterized by a protein glycosylation defect with impairment of N-glycan synthesis. In both patients a corpuscular, haemolytic anaemia had been diagnosed in early childhood and both patients underwent splenectomy before the age of 9 years. They developed clinical manifestations of haemochromatosis and only re-evaluation during adulthood led to the correct diagnosis. Abnormal glycosylation of proteins involved in iron homeostasis is likely to contribute to the massive hepatic iron accumulation characteristic for CDA type II. Both patients required chelation therapy. This report points out the need to consider CDA in patients presenting with haemochromatosis and anaemia.
我们描述了两名患有II型先天性红细胞生成异常性贫血（CDA）并伴有严重铁过载的患者，该疾病的特征是蛋白质糖基化缺陷以及N-聚糖合成受损。两名患者在幼儿期均被诊断为小细胞溶血性贫血，且均在9岁前接受了脾切除术。他们出现了血色素沉着症的临床表现，直到成年期重新评估才得以正确诊断。参与铁稳态的蛋白质糖基化异常可能导致了II型CDA特有的大量肝脏铁蓄积。两名患者均需要螯合疗法。本报告指出，对于出现血色素沉着症和贫血的患者，有必要考虑CDA。
