检验医学与临床
檢驗醫學與臨床
검험의학여림상
JOURNAL OF LABORATORY MEDICINE AND CLINICAL SCIENCES
2013年
20期
2648-2649,2651
,共3页
阮丽明%周艳洁%朱茂灵%丁进龙%何桂琼%梁萧
阮麗明%週豔潔%硃茂靈%丁進龍%何桂瓊%樑蕭
원려명%주염길%주무령%정진룡%하계경%량소
血红蛋白 H病%毛细管电泳%血液学特点
血紅蛋白 H病%毛細管電泳%血液學特點
혈홍단백 H병%모세관전영%혈액학특점
hemoglobin H disease%capillary electrophoresis%hematology characteristics
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。
目的分析α-珠蛋白生成障礙性貧血（地貧）血紅蛋白H病（HbH病）在臨床血液學參數分析及分子生物學檢測中的特點併探討其原因。方法迴顧性分析南寧市農村地區142例用分子生物學診斷為HbH病患者的CE結果和相關的血液學指標。結果142例HbH病患者中，缺失型HbH病89例，佔62．68％，非缺失型HbH病53例，佔37．32％；缺失型HbH病CE可見HbH峰，HbCS複閤HbH病既可見HbH峰，又可見HbCS峰。血紅蛋白電泳及血液學分析顯示非缺失型HbH病患者的HbH水平及貧血程度高于缺失型HbH病（P＜0．05）。結論南寧市農村地區HbH病基因突變類型多樣，以缺失型為主；HbCS複閤HbH病在CE中可齣現特異的HbCS峰；高HbH含量以及CS鏈在紅細胞膜上的聚集是造成HbCS複閤HbH病患者臨床錶現比缺失型HbH病患者嚴重的主要原因。
목적분석α-주단백생성장애성빈혈（지빈）혈홍단백H병（HbH병）재림상혈액학삼수분석급분자생물학검측중적특점병탐토기원인。방법회고성분석남저시농촌지구142례용분자생물학진단위HbH병환자적CE결과화상관적혈액학지표。결과142례HbH병환자중，결실형HbH병89례，점62．68％，비결실형HbH병53례，점37．32％；결실형HbH병CE가견HbH봉，HbCS복합HbH병기가견HbH봉，우가견HbCS봉。혈홍단백전영급혈액학분석현시비결실형HbH병환자적HbH수평급빈혈정도고우결실형HbH병（P＜0．05）。결론남저시농촌지구HbH병기인돌변류형다양，이결실형위주；HbCS복합HbH병재CE중가출현특이적HbCS봉；고HbH함량이급CS련재홍세포막상적취집시조성HbCS복합HbH병환자림상표현비결실형HbH병환자엄중적주요원인。
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 .
