【摘要】 目的　对 1例先天性红细胞生成异常性贫血 (CDA)进行确诊。方法　常规方法进行溶血相关试验 ;按国际血液学标准委员会推荐法测定红细胞酶活力 ;以 4 %～ 15 %SDS 聚丙烯酰胺梯度凝胶行红细胞膜蛋白电泳定性定量分析 ;在透射电镜下观察红细胞膜超微结构。结果　 (1)骨髓象示红系明显增生 (占 0 80 ) ,其中对称双核畸形晚幼红细胞占 0 10。成熟红细胞淡染区扩大。 (2 )骨髓外铁强阳性 ,内铁 0 98,血清铁蛋白 16 0 7μg/L ,血糖 2 7 5mmol/L。 (3)Ham试验自身血清 (- ) ,正常人血清 (+)。 (4 )Hb电泳见H快迁移区带 ,H包涵体 (+)。 (5 )红细胞膜蛋白电泳显示带 3蛋白迁移率增快 (110 % ) ,区带蛋白 1、3和 4 1迁移率 (% )有不同程度减少 ,分别为 11 6 (正常对照 12 5～ 14 1)、2 0 0 (2 1 2～ 2 4 3)和 6 7(7 4～ 9 2 )。 (6 )透射电镜结果显示 ,红细胞出现“双重膜”结构 ,在细胞膜外周形成开裂、甚至脱落。结论　该患者确诊为Ⅱ型CDA合并α型地中海贫血 ,继发铁末沉着症、糖尿病。更多还原

【Abstract】 Objective Diagnosis of a case with congenital dyserythropoietic anemia (CDA). Methods Routine tests for hemolysis were carried out. The activites of erythrocyte enzymes were measured according to the methods recommended by international committee for standardization in hematology (ICSH). The quantity and quality of erythrocyte membrane proteins were analyzed with 4%-15% sodium dodecyl sulfate-polyacrylamide gradient gel electrophoresis (SDS-PAGE). The membrane ultrastructure of erythrocyte from bone marrow was observed under transmission electron microscope (TEM). Results The main results were: (1)Bone marrow morphology revealed erythroid hyperplasia and 0.10 symmetrically binucleated late erythroblasts. The erythrocytes in peripheral blood showed anisocytosis and hypochromia. (2)The intracellular iron was 0.98 and the storage iron was strongly positive in bone marrow. The serum ferritin was 1607 μg/L. The content of blood sugar was 27.5 mmol/L. (3)Ham test was negative in his own acidified serum but positive in the group-compatible sera. (4)A quick mobile H band was seen in hemoglobin electrophoresis. H inclusion test was positive. (5)SDS-PAGE demonstrated that the migration of band 3 protein of erythrocyte membrane in an electric field was faster (110%) than that of normal controls and the relative contents of band 1,band 3,band 4.1 were reduced to various extent. (6)“Double membrane” with gap and shedding was observes under TEM. Conclusions The final diagnosis of the case was CDAⅡ,also called HEMPAS (hereditary erythroblastic multinuclearity with positive acidified serum ) ,accompanied with alpha thalassemia and secondary siderosis and diabetes.更多还原