先天性红细胞生成异常性贫血Ⅰ型临床及血液学特征

Clinical and hematological features of congenital dyserythropoietic anemia type Ⅰ

目的分析先天性红细胞生成异常性贫血Ⅰ型（CDA—Ⅰ）的临床及实验室特征，以提高对该病的认识。方法对5例CDA—Ⅰ患者的临床表现、血液学检查结果及药物治疗反应结合文献进行回顾性分析。结果5例患者中男1例，女4例，中位年龄31（17～39）岁。均幼年发病，长期贫血，1例发育畸形，3例伴有黄疸，4例脾肿大。骨髓有核细胞增生明显活跃，红系比例增高，巨幼样变，幼红细胞问可见核间桥；粒系、巨核系细胞形态无特殊改变。幼红细胞胞核呈瑞士奶酪样特征性超微结构改变。多数患者血清铁蛋白不同程度增高。骨髓造血细胞染色体检查均正常。1例患者曾于外院诊断为遗传性球形红细胞增多症，行切脾治疗无效。结论CDA—Ⅰ少见，临床以自幼发病的长期慢性贫血，常伴黄疸、脾脏肿大、躯体发育畸形和继发铁过载为特征，血液学表现为大细胞贫血、骨髓红系无效造血和典型幼红细胞形态和超微结构改变。

Objective To analyze the clinical and laboratory features of patients with congenital dyserythropoietic anemia type Ⅰ（ CDA- Ⅰ ） , and improve the clinical diagnostic accuracy. Methods The clinical and hematological features of 5 patients diagnosed as CDA- Ⅰ in our hospital between July 2002 and July 2007 were analyzed retrospectively, and the related literatures was reviewed. Results Five CDA- Ⅰ patients, 1 male and 4 females, all had a long history of varied degree of chronic anemia. One patient had congenital malformations, 3 jaundice and 4 hepatosplenomegaly. Bone marrow specimens invariably showed hypercellularity due to erythroid hyperplasia with megaloblastoid changes, irregularly shaped nuclear, and chromatin bridges in 0.2% to 0.6% of all erythroblasts. All the 5 patients＇ bone marrow erythroblasts showed spongy heterochromatin appearances（swiss-cheese） with electron microscopy examination. There was no morphologic abnormality in the granulocytes and megakaryocytes. Serum ferritin levels were increased in 3/4 patients. One patient had been misdiagnosed as hereditary spherocytosis and performed splenectomy in the local hospital with no improvement in Hb level. Conclusions CDA- Ⅰ is a rare congenital anemia characterized by ineffective erythropoiesis, jaundice, hepatosplenomegaly and iron overload, and may be misdiagnosed. Keeping these manifestations in mind should avoid misdiagnosis.