云南德宏地区Hb WS异常血红蛋白突变的血液学和基因型分析

目的分析云南德宏地区Hb WS异常血红蛋白突变的血液学和基因型。方法获取云南德宏地区6 043例外周静脉血样本,采用突变阻滞扩增系统ARMS-PCR进行Hb WS基因突变的筛查,突变携带者的样本采用血细胞分析仪进行血常规检测,采用毛细管电泳法进行血红蛋白电泳,采用Gap-PCR检测缺失型α珠蛋白基因突变,采用反向点杂交法检测常见非缺失型α珠蛋白基因突变和β地中海贫血基因突变。结果在6 043例样本中,共检出Hb WS突变携带者38例(携带率0. 63%),包含4种地中海贫血基因突变组合。单纯携带Hb WS突变患者中,2例表现为轻度贫血,2例表现为中重度贫血,21例无贫血症状。Hb WS复合3. 7缺失型α地中海贫血的患者平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)均低于正常参考值,2例表现为小细胞低色素性贫血,2例表现为轻中度贫血;Hb WS复合β地中海贫血突变的患者中,57%表现为轻中度贫血;1例同时复合3. 7缺失型和β地中海贫血的Hb WS突变携带者表现为小细胞低色素性贫血。结论 Hb WS突变复合α地中海贫血和β地中海贫血突变可出现不同的基因型和血液学表型,杂合子未发现有规律的血液学表征,可表现为正常、轻中重度贫血及小细胞低色素性贫血,应通过血液学和基因分析来进行临床诊断。

Hematological and genotype analysis of HbWS abnormal hemoglobin mutation in Dehong,Yunnan

Objective To analyze hematology and genotypes of Hb WS abnormal hemoglobin mutation in Dehong, Yunnan.Methods A total of 6 043 peripheral venous blood samples were collected in Dehong,Yunnan,amplification refractory mutation system( ARMS)-PCR was used to screen Hb WS gene mutations,the samples of carriers of gene mutations were prepared for routine blood test using hematology analyzer,capillary electrophoresis was used for hemoglobin electrophoresis,Gap-PCR was used to detect deletion α globin gene mutation,reverse dot blot method was used to detect non-deletion α globin gene mutation and β thalassemia gene mutation.Results Among 6 043 samples,38 cases( 0. 63%) of four kinds of thalassemia gene mutation types were Hb WS mutation carriers. Among the patients with simple Hb WS mutations,2 patients were diagnosed as mild anemia,2 patients were diagnosed as moderate and severe anemia,and 21 patients had no anemia symptoms. Among the patients with Hb WS mutation combined with 3. 7 deletion α thalassemia,mean corpuscular volume( MCV) and mean corpuscular hemoglobin( MCH) were lower than the normal reference values,2 patients were diagnosed as microcytic hypochromic anemia,and 2 patients were diagnosed as mild and moderate anemia. Among the patients with Hb WS mutation combined with β thalassemia,57% of the patients were diagnosed as mild and moderate anemia. One carrier of Hb WS mutation combined with 3. 7 deletion α thalassemia,β thalassemia was diagnosed as microcytic hypochromic anemia. Conclusion Hb WS mutation combined with 3. 7 deletion α thalassemia,β thalassemia may show variable clinical genotypes and hematologic phenotypes,no regular hematologic phenotype is observed in heterozygote,normal status,mild,moderate,and severe anemia,microcytic hypochromic anemia are found,hematologic detection and gene analysis should be used for clinical diagnosis.