Harkness D R, Villa L, Berman I, Wilson J B, Huisman T H
Hemoglobin. 1977;1(7):663-77. doi: 10.3109/03630267708999173.
A 25 year old woman with congenital dyserythropoietic anemia (CDA) Type I is described. Typical morphologic abnormalities of the erythroid precursors in the bone marrow by light and electron microscopy, marked ineffective erythropoiesis and iron loading were present, Globin chain synthetic ratios as well as functional and structural studies on the patients hemoglobin were normal, ruling out the presence of thalassemia or a mutant hemoglobin which can both give rise to morphologic and clinical features similar to CDA. The laboratory findings on this patient and family members and a brief review of the literature are presented.
本文描述了一名25岁患有I型先天性红细胞生成异常性贫血（CDA）的女性。通过光镜和电镜观察发现骨髓中红系前体细胞存在典型的形态学异常，有明显的无效红细胞生成和铁负荷增加。患者血红蛋白的珠蛋白链合成比例以及功能和结构研究均正常，排除了地中海贫血或突变血红蛋白的存在，这两种情况均可导致与CDA相似的形态学和临床特征。本文介绍了该患者及其家庭成员的实验室检查结果，并对相关文献进行了简要综述。
