摘要
目的对血红蛋白电泳时HbA2在正常范围内的β地中海贫血的基因突变类型进行分析。方法对所有的标本进行血常规、血红蛋白电泳,PCR-反向斑点杂交同时检测17种中国人常见的β地中海贫血基因突变确定其基因型,对于经常规基因检测不能确诊的基因突变,采用直接测序法。结果 1084例确诊为轻型β地中海贫血的标本中,血红蛋白电泳时1018例HbA2≥3.5%,占93.91%,66例<3.5%,占6.09%,这66例轻型β地中海贫血有9种基因突变类型,分别为:CD41-42(-TTCT)35例、CD17(A→T)15例、IVS-Ⅱ-654(C→T)4例、-28(A→G)4例、CD71-72(+A)3例、CD43(G→T)2例、IVS-Ⅰ-1(G→T)1例、-29(A→G)1例、CD31(-C)1例。结论血红蛋白电泳时HbA2在正常范围内并不能完全排除轻型β地中海贫血,轻型β地中海贫血的诊断需结合血常规、血红蛋白电泳、基因检测等综合分析,以避免漏诊、误诊。
Objective：To analyze the gene mutations of β thalassemia trait with normal HbA2 level.Methods： Blood samples from the participants were used for blood smear tests and hemoglobin electrophoresis and for 17 beta-globin point mutations by reverse dot blot.DNA sequencing was used when the regular methods could not confirm the genotype.Results： Among the 1084 β thalassemia trait patients,1018 were HbA2≥3.5% and the rest 66 were HbA23.5%.9 types of thalassemia gene mutations were detected in these 66 patients.These mutations were CD41-42（-TTCT）（35 cases）,CD17（A→T）（15 cases）,IVS-Ⅱ-654（C→T）（4 cases）,-28（A→G）（4 cases）,CD71-72（＋A）（3 cases）,CD43（G→T）（2 cases）,IVS-Ⅰ-1（G→T）（1 cases）,-29（A→G）（1 case） and CD31（-C）（1 case）.Conclusions： β thalassemia trait can′t be excluded even if its HbA2 is normal.The right diagnosis of β thalassemia trait should be made based on the MCV,MCH,hemoglobin electrophoresis and gene tests.Only in this way,misdiagnosis could be avoided.
出处
《中国优生与遗传杂志》
2012年第6期11-12,55,共3页
Chinese Journal of Birth Health & Heredity
基金
教育部"春晖计划"
编号:Z2005-2-45005
广西科技厅自然基金
编号:桂科自0899013
广西卫生厅课题
编号:Z2004103
关键词
Β地中海贫血
轻型
诊断
HBA2
β thalassemia
β thalassemia trait
Diagnosis
HbA2
