Soysal T, Akun E, Ozaras R, Aki H, Ozturk M, Tuzuner N
Cerrahpasa Medical Faculty, University of Istanbul, Turkey.
Haematologia (Budap). 2000;30(1):45-9. doi: 10.1163/15685590051129887.
A 25-year-old male with anemia, jaundice and liver dysfunction was admitted to our institution. Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic stippling in peripheral blood smear, erythroid hyperplasia with megaloblastoid changes, binucleated cells and intranuclear bridging in bone marrow aspirate and spongy, unevenly condensed nuclear chromatin in electron microscopy studies indicated that he had congenital dyserythropoietic anemia (CDA) type I. As a rare finding in CDA, ringed sideroblasts were noted. It is proposed that this patient is an example for the designation 'variant congenital dyserythropoietic anemia with ringed sideroblasts'.
一名患有贫血、黄疸和肝功能障碍的25岁男性被收治入我院。外周血涂片显示有异形红细胞症伴泪滴样形态、嗜多色性、嗜碱性点彩,骨髓穿刺显示红系增生伴巨幼样变、双核细胞和核内桥接,电子显微镜研究显示核染色质呈海绵状、不均匀浓缩,提示为I型先天性红细胞生成异常性贫血(CDA)。作为CDA中的罕见发现,可见环形铁粒幼细胞。建议将该患者作为“伴有环形铁粒幼细胞的变异型先天性红细胞生成异常性贫血”的一个实例。