Neri A
Acta Haematol. 1977;58(5):278-87. doi: 10.1159/000207838.
A case of severe congenital anaemia (Hb levels 3--4 g/dl) is presented. The patient, a 21-year-old female, requires, since the age of two, periodical blood transfusions, but is nevertheless able to lead a normal life as a housewife. Although the case has to be considered as a form of congenital hypoplastic disorder of the erythroid tissue, some of the clinical and haematological features are compatible with a congenital dyserythropoietic state. On the basis of clinical findings it is suggested that it may represent a previously undescribed form of anaemia which shares the features of both hypoplastic and dysplastic congenital affections of erythropoiesis.
本文报告一例严重先天性贫血（血红蛋白水平为3 - 4g/dl）的病例。患者为一名21岁女性，自两岁起就需要定期输血，但仍能够作为家庭主妇过上正常生活。尽管该病例必须被视为红系组织先天性发育不全的一种形式，但一些临床和血液学特征与先天性红细胞生成异常状态相符。基于临床发现，提示这可能代表一种先前未被描述的贫血形式，它兼具红细胞生成先天性发育不全和发育异常的特征。
