Köklü Seyfettin, Ertuğrul Derun, Onat Ahmet Mesut, Karakuş Sema, Haznedaroğlu Ibrahim C, Büyükaşik Yahya, Sayinalp Nilgün, Ozcebe Osman, Dündar Semra V
Department of Hematology, Hacettepe University Medical School, Ankara, Turkey.
Am J Hematol. 2002 Mar;69(3):210-3. doi: 10.1002/ajh.10055.
Congenital dyserythropoietic anemias (CDAs) are a group of relatively rare inherited anemias. They are characterized by ineffective erythropoiesis and classified as three major groups and a number of variants. CDA type II, also known as hereditary erythroblastic multinuclearity with a positive acidified serum test (HEMPAS), is the most frequent one. A number of associations with CDA II have been reported, although each described only one or a few patients. Here we presented a piebald woman with vaginal atresia who was tested for anemia and diagnosed as CDA type II. Piebaldism and anemia association were previously described in the mouse. Our case was the first that shows the features of both piebaldism and CDA in the same patient. This association may suggest a stem cell defect to cause both hematopoietic and cutaneous manifestations.
先天性红细胞生成异常性贫血（CDA）是一组相对罕见的遗传性贫血。其特征为红细胞生成无效，并分为三大类及若干变异型。II型CDA，也称为遗传性红细胞多核伴酸化血清试验阳性（HEMPAS），是最常见的一种。尽管每项报道仅涉及一名或少数几名患者，但已有多项关于II型CDA的关联报道。在此，我们报告了一名患有阴道闭锁的斑驳病女性，其因贫血接受检查并被诊断为II型CDA。斑驳病与贫血的关联此前在小鼠中已有描述。我们的病例是首例在同一患者中同时表现出斑驳病和CDA特征的病例。这种关联可能提示存在一种干细胞缺陷，可导致造血和皮肤表现。
