142例血红蛋白H病患者血液学与分子生物学检测结果分析

摘要

Objective To analyze the results of hematology and molecular biology detection in patients with hemoglobin H(HbH) disease .Methods Results of capillary electrophoresis(CE) detection and related hematology a-nalysis were analyzed in 142 patients with HbH disease in rural areas of Nanning ,definitely diagnosed by molecular biology detection .Results In 142 patients with HbH disease ,89 cases were with deletion HbH disease ,accounting for 62 .68% ,while 53 cases were with non-deletion HbH disease ,accounting for 37 .32% .CE detection of patients with deletion HbH disease showed a HbH peak ,of patients combined with HbH and HbCS disease showed a HbH peak and a HbCS peak at the same time .Hemoglobin electrophoresis and hematology analysis indicated that HbH level was higher and disease condition of anaemia was more severe in patients with non-deletion HbH disease than in patients with deletion HbH disease(P<0 .05) .Conclusion The gene mutation types in patients with HbH disease of rural areas of Nanning could be various ,most of which might be deletion type .Specific HbCS peak could be detected in patients combined with HbCS and HbH disease by CE detection .High level of HbH and the aggregation of CS chain on membrane of red blood cells could be the main reasons ,causing the disease condition of patients combined with HbCS and HbH is severe than patients with deletion HbH disease .%目的分析α-珠蛋白生成障碍性贫血（地贫）血红蛋白H病（HbH病）在临床血液学参数分析及分子生物学检测中的特点并探讨其原因。方法回顾性分析南宁市农村地区142例用分子生物学诊断为HbH病患者的CE结果和相关的血液学指标。结果142例HbH病患者中，缺失型HbH病89例，占62．68％，非缺失型HbH病53例，占37．32％；缺失型HbH病CE可见HbH峰，HbCS复合HbH病既可见HbH峰，又可见HbCS峰。血红蛋白电泳及血液学分析显示非缺失型HbH病患者的HbH水平及贫血程度高于缺失型HbH病（P＜0．05）。结论南宁市农村地区HbH病基因突变类型多样，以缺失型为主；HbCS复合HbH病在CE中可出现特异的HbCS峰；高HbH含量以及CS链在红细胞膜上的聚集是造成HbCS复合HbH病患者临床表现比缺失型HbH病患者严重的主要原因。