云南省育龄人群13地中海贫血血液学及血红蛋白电泳特征的研究  

Haematological and electrophoretic characterisation of [3-thalassaemia in Yunnan province of Southwestern China

作　　者：张杰[1,2] 贺静[1,2] 毛小琴[3] 曾小红[1,2] 陈红[1,2] 苏洁[1,2] 朱宝生[1,2] 

机构地区：[1]云南省第一人民医院遗传诊断中心、云南省出生缺陷与遗传病研究重点实验室,中国昆明650032 [2]昆明理工大学遗传学教研室 [3]云南省第一人民医院检验科,中国昆明650032

出　　处：《英国医学杂志中文版》2017年第7期375-380,共6页The BMJ Chinese Edition

基　　金：该研究南国家自然科学基金（81260415）,云南省应用基础研究联合专项（2011FB164,2011FB224）,云南省教育厅科学研究基金项目（20152029）资助.

摘　　要：目的B地中海贫血（地贫）广泛分布于中国西南地区。对β地贫特征进行研究能够更好的对高危人群进行筛查和产前诊断。设计回顾性分析。方法在此研究中，对15067例样本进行血红蛋白电泳筛查，对血红蛋白（Hb）A2和HbA的数值进行统计分析。对723例β地贫筛查阳性的患者进行最佳筛查截断值的计算。对486例确诊β地贫的患者进行血常规和Hb电泳特征的分析。Objectives -Thalassaemia is widely found in Southwestern China. Characterisation of -thalassaemia can improve screening and prenatal diagnosis for at-risk populations. Design A retrospective study. Methods In this study, the levels of haemoglobin alpha 2 (HbA(2)) and haemoglobin alpha (HbA) were analysed by gender for a total of 15067 subjects screened by capillary electrophoresis. The cut-off value with the highest accuracy was established to identify -thalassaemia in 723 patients suspected to have this disease. Haematological and electrophoretic characterisation of eight common types of -thalassaemia were analysed in 486 -thalassaemia subjects. Results HbA levels were significantly higher in men than in women, but there was no significant difference on HbA(2) levels. A new cut-off value for the diagnosis of -thalassaemia (HbA(2)4.0%) with the highest accuracy was proposed for the studied populations. Haemoglobin (Hb) was significantly higher in men compared with women (p<0.05), whereas no statistically significant differences were found for mean cell volume (MCV), mean cell haemoglobin (MCH), HbA and HbA(2). The haemoglobin E (HbE) group showed comparatively higher values for haematological indices (Hb, MCV and MCH) than the other genotypes in heterozygous -thalassaemia groups (p<0.05), and -28 (A>G) (HBB (-globin):c.-78A>C) had significantly higher HbA(2) values compared with other -thalassaemia. Conclusions Ethnic groups have diversified -globin gene mutations and considerable haematological variations. Our study will lay the foundation for screening programmes and clinical management of thalassaemia in Southwestern China.

关 键 词：云南 地中海贫血 血液学 血红蛋白 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R446.11[医药卫生—内科学]