Andersen U M
Randers Centralsygehus, paediatrisk afdeling.
Ugeskr Laeger. 1993 Jul 12;155(28):2213-5.
Diamond-Blackfan anaemia (DBA) has been described in approximately 300 cases world wide. It is characterised by a normochromic-macrocytic anaemia in early childhood, reticulocytopenia and a normocellular marrow with a selective deficiency of red cell precursors. Foetal haemoglobin is usually increased, and DBA is associated with increased expression of "i" antigen. DBA is often associated with multiple congenital anomalies, which are described. Transient erythroblastopenia is an important differential diagnosis and the distinctive characteristics are discussed. A case of DBA in an 8-week-old boy presenting with extremely low haemoglobin (0.9 mmol/l) is presented. The literature is reviewed.
全世界已报道约300例先天性纯红细胞再生障碍性贫血（DBA）。其特征为儿童早期出现正色素性大细胞性贫血、网织红细胞减少以及骨髓细胞正常但红细胞前体选择性缺乏。胎儿血红蛋白通常升高，且DBA与“i”抗原表达增加有关。DBA常伴有多种先天性异常，文中对此进行了描述。暂时性红细胞生成减少是重要的鉴别诊断，文中讨论了其独特特征。本文报告了一名8周大男童患DBA且血红蛋白极低（0.9 mmol/L）的病例，并对相关文献进行了综述。
