Sansone G
Br J Haematol. 1978 Aug;39(4):537-43. doi: 10.1111/j.1365-2141.1978.tb03623.x.
This report concerns a 6-year-old child with severe dyseythropoietic anaemia and splenomegaly, apparently present since the first months of life. Striking anisopolikilocytosis was observed in the blood smear. The bone marrow showed marked erythroblastic hyperplasia with dyserythropoiesis. Ineffective erythropoiesis was demonstrated by ferrokinetic studies. Ultrastructurally erythroblasts appeared grossly abnormal. The clinical course was progressively worsening, necessitating repeated transfusions. The patient's father, also affected by a chronic anaemia of moderate degree since childhood, had a peripheral picture of anisopoikilocytosis, a shortened life span of the erythrocyte and in his bone marrow an erythroblastic hyperplasia with many atypical erythroblasts. His condition deteriorated because of persistent jaundice, biliary cholelithiasis, fibrosis and haemosiderosis of the liver. The clinical course, the pattern of the genetical transmission, the peculiar features of the erythroblasts disclosed by light and by electron microscope studies suggest that these cases represent a new type of congenital dyserythropoietic anaemia.
本报告涉及一名6岁儿童，患有严重的红细胞生成异常性贫血和脾肿大，自出生后的头几个月起就明显存在。血液涂片显示出显著的异形红细胞增多症。骨髓显示出明显的成红细胞增生伴红细胞生成异常。铁动力学研究证实存在无效的红细胞生成。超微结构上，成红细胞显得明显异常。临床病程逐渐恶化，需要反复输血。患者的父亲自童年起也患有中度慢性贫血，其外周血有异形红细胞增多症，红细胞寿命缩短，骨髓中有成红细胞增生，并有许多非典型成红细胞。他的病情因持续黄疸、胆石症、肝脏纤维化和含铁血黄素沉着而恶化。临床病程、遗传传递模式、光镜和电镜研究揭示的成红细胞的特殊特征表明，这些病例代表了一种新型的先天性红细胞生成异常性贫血。
