Abali HÜSEYIN, Haznedaroglu IBRAHIM C., Sayinalp NILGÜN, Kosar ALI, Büyükasik YAHYA, Özatli DÜZGÜN, Batman FIGEN
Hacettepe University School of Medicine, Department of Internal Medicine Division of Hematology, Ankara/Turkey.
Hematology. 1999;4(4):357-360. doi: 10.1080/10245332.1999.11746459.
Congenital dyserythropoietic anemias (CDAs) are extremely rare types of hemolytic anemias that share similar morphological findings and are characterized by ineffective erythropoiesis. CDAs are divided into three major groups and few variants. The most frequently encountered type is CDA type II (HEMPAS: Hereditary erythroblastic multinuclearity associated with a positive acidified serum test). We herein report a case of CDA type II, who presents with a mild anemia, jaundice, splenomegaly, cholelithiasis and hemolysis. CDA type II, about 120 cases have been reported so far, has recently been discovered to be due to the defective glycolization of membrane proteins on the erythrocyte progenitors. The responsible gene has been found to be located on the Chromosome 20q only a few years ago.
先天性红细胞生成异常性贫血（CDAs）是极为罕见的溶血性贫血类型，具有相似的形态学表现，其特征为无效红细胞生成。CDAs分为三大类及少数变异型。最常见的类型是II型CDA（HEMPAS：遗传性成红细胞多核性伴酸化血清试验阳性）。我们在此报告一例II型CDA患者，其表现为轻度贫血、黄疸、脾肿大、胆石症和溶血。II型CDA目前已报告约120例，最近发现是由于红细胞祖细胞膜蛋白糖基化缺陷所致。仅在几年前就已发现相关基因位于20号染色体上。
