摘要
目的了解东莞地区珠蛋白生成障碍性贫血(简称地贫)的发生率及基因谱特征。方法收集2014年6月至2015年5月来该院就诊的门诊/住院患者的血液,根据血常规、电泳结果筛查疑似病例,再进行Gap-PCR和反向斑点杂交法(RBD)确诊地贫类型。结果 7 845例样本中疑似病例1 132例,疑似病例中检出α和β地贫共662例,地贫基因总携带率为8.44%(662/7 845)。其中α-地贫412例,占5.25%,最常见的为αα/--SEA、-α3.7/αα两型分别占α-地贫的61.17%和17.48%,还检测出1例HKαα/--SEA混合型;β-地贫250例占3.19%,最常见的为βCD41-42/βN、βIVS-Ⅱ-654/βN、βCD17/βN这3型分别占β-地贫基因型的37.6%、23.2%和16.0%;α-地贫复合β-地贫12例占0.18%。结论广东省东莞市为地贫高发地区,应该加强婚前检查、遗传咨询,减少地贫患儿的出生率,提高人口素质。
Objective To investigate the type of gene mutation and its distribution in patients with thalassemia in Dongguan.Methods 7 845 specimens collected from the patients and individuals with physical examination in our hospital from June 2014 to May 2015 were performed according to the results of routine blood and electrophoresis screening with suspected cases.The specimens with phenotype positive were definitely verified the thalassemia type by using Gap-PCR and reverse dotblot（RDB）.ResultsAmong 7 845 specimens,suspected cases of 1 132 cases,662specimens were finally diagnosed asα-thalassemia andβ-thalassemia,with the thalassemia carrying rate of 8.44%（662/7 845）,including 412cases（5.25%）of a-thalassemia.The most common type ofαα/--SEA,-α3.7/ααaccounted for 61.17% and 17.48%inα-thalassemia,also detected HKαα/--SEA mixed type in 1case and 250cases（3.19%）ofβ-thalassemia cases.The most common type ofβCD41-42/βN,βIVS-Ⅱ-654/βN,βCD17/βN accounted for 37.6%,23.2%,16.0%inβ-thalassemia.Theα-thalassemia compositeβ-thalassemia for 12cases（0.18%）.Conclusion Dongguan city of Guangdong province is a high incidence area of thalassemia.Premarital examination,genetic counseling should be strengthened,and reduce the birth rate of the thalassemia children to improve the quality of the population.
出处
《国际检验医学杂志》
CAS
2016年第9期1230-1231,共2页
International Journal of Laboratory Medicine
