溶血性疾病中的双重杂合因素及溶血系统分析的临床意义(附506例贫血黄疸病因分析)  

Compound heterozygote factor and clinical significance of hemolysis system analysis in the diagnosis of congenital hemolytic anemia:Etiological analysis of 506 cases of anemia and jaundice

作　　者：李津婴[1] 黄正霞[1] 许燕群[1] 周虹[1] 韩凤来[1] 龚胜蓝[1] 万树栋[1] 

机构地区：[1]第二军医大学长海医院血液科,上海200433

出　　处：《临床血液学杂志》2005年第4期204-206,共3页Journal of Clinical Hematology

摘　　要：目的:分析初诊为贫血或溶血患者的发病原因。方法:常规筛查506例贫血、黄疸溶血、脾大患者,经试验确定存在溶血后,针对性进行血红蛋白病、红细胞膜病、红细胞酶病和后天获得性溶血指标系统分析及家系调查。结果:506例患者中,确诊病因的溶血性疾病384例,病因不明的溶血性贫血21例,非溶血性血液病33例,非血液疾病24例,失访44例。在病因明确的384例溶血性疾病中,遗传性溶血病因356例,其他溶血病因28例。遗传性溶贫中血红蛋白病114例、红细胞膜病133例、红细胞酶病65例、双重杂合子44例。将双重杂合子中的各个病因出现次数与前3大类病因组合并,则先天溶贫病因百分比分别为血红蛋白病34.62%、红细胞膜病42.56%、红细胞酶病22.82%。红细胞缺陷酶的比例为葡萄糖-6-磷酸脱氢酶41.57%、丙酮酸激酶44.94%、嘧啶-5'核苷酸酶3.37%、磷酸果糖激酶3.37%、NADH-高铁血红蛋白还原酶4.49%、醛缩酶1.12%、谷胱甘肽还原酶1.12%。结论:双重杂合子红细胞存在两种遗传缺陷,易互相干扰诊断提示。溶血系统分析和家系调查可以提高溶血性贫血病因确诊率,尤其对红细胞酶病和双重杂合子具有鉴别诊断意义。Objective:To analyze the etiology of 506 cases of anemia and jaundice. Method:On the basis of hemolytic screen tests confirming the existence of hemolysis, system analysis and family survey of hemoglobinopathy, erythrocyte membranopathy, erythrocyte enzymopathy and acquired hemolytic diseases were carried out. Result:Of the 506 cases, cause-confirmed hemolytic diseases were 384 cases, unknown-cause hemolytic diseases 21 cases, nonhemolytic hematologic diseases 33 cases, non-hematologic diseases 24 cases and follow-up-missing 44 cases. In the 384 cause-confirmed hemolytic cases, heredity hemolysis were 356, of whom hemoglobinopathy was 114, membranopathy 133, enzymopathy 65 and compound heterozygote 44 (12.36%). Combining the etiological factors with compound heterozygotes, the total percentage of hemoglobinopathy was 34.62%, membranopathy 42.56% and enzymopathy 22.82%. Of erythrocyte defected enzymes, glucose-6-phosphate dehydrogenase were 41.57%, pyruvate kinase 44.94%, pyrimidine 5'-nucleotidase 3.37%, phosphofructokinase 3.37%, NADH-Diaphorase 4.49%, aldolase 1.12%, glutathione reductase 1.12%. Conclusion:The diagnostic clues of double heterozygote could be interferenced by two kinds of abnormalities in erythrocyte. Hemolytic systemic analysis and family survey may improve the etiologically differential diagnosis of hemolytic anemia especially for enzymopathy and double heterozygote.

关 键 词：贫血 溶血性 双重杂合子 系统分析 家系调查 

分 类 号：R556.6[医药卫生—血液循环系统疾病]