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不同基因型新生儿地中海贫血的血液学特征分析 被引量:9

Analysis on hematological characteristics of neonatal thalassemia gene carriers of different mutation types
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摘要 目的比较不同基因类型新生儿地中海贫血基因携带者的血液学特征,同时分析广西壮族自治区新生儿地中海贫血基因类型及分布特点。方法利用单管多重PCR技术检测缺失型α-地中海贫血基因,采用反向杂交(RDB)-PCR技术检测非缺失型α-地中海贫血及β-地中海贫血的基因突变。用SYSMEX-XS800I血液分析仪测定患者全血的血红蛋白浓度(Hb)、平均红细胞体积(MCV)、平均红细胞血红蛋白量(MCH)等血液学指标。应用SPSS软件对实验数据进行统计分析。结果在915例新生儿地中海贫血携带者中,轻型α-地中海贫血430例(46.99%)、静止型α-地中海贫血291例(31.80%)、β0地中海贫血122例(13.3%)、β+地中海贫血42例(4.6%)、中间型α-地中海贫血30例(3.3%)。与对照组比较,轻型α-地中海贫血、中间型α-地中海贫血、β0地中海贫血患者的Hb、MCV、MCH值及静止型α-地中海贫血患者的MCV、MCH值均显著降低,差异均有统计学意义(P<0.05),而静止型α-地中海贫血患者的Hb值、β+地中海贫血患者的Hb、MCV、MCH值与对照组比较差异无统计学意义(P>0.05)。结论该研究丰富了新生儿地中海贫血的血液学资料,对新生儿地中海贫血的遗传指导具有重要意义。 Objective: To compare the hematologic characteristics of neonatal thalassemia gene carriers of different mutation types,analyze the gene types and distribution characteristics of neonatal thalassemia in Guangxi. Methods: Single tube multiplex PCR technique was used to detect α-thalassemia gene,reverse dot blotting( RDB) PCR was used to detect undeletional α-thalassemia and β-thalassemia gene mutation. SYSMEX-XS800 I blood analyser was used to detect hemoglobin( Hb) concentration,mean corpuscular volume( MCV),and mean corpuscular hemoglobin( MCH). SPSS software was used to analyze the data statistically. Results: Among 915 neonatal thalassemia gene carriers,430 neonates( 46. 99%) were diagnosed as mild α-thalassemia,291 neonates( 31. 80%) were diagnosed as silent α-thalassemia,122 neonates( 13. 3%) were diagnosed as β0thalassemia,42 neonates( 4. 6%) were diagnosed as β+thalassemia,30 neonates( 3. 3%) were diagnosed as intermediate α- thalassemia. Compared with control group,Hb,MCV,and MCH values in neonates with mild α-thalassemia,intermediate α- thalassemia,and β0thalassemia and MCV and MCH values in neonates with silent α-thalassemia decreased,there were statistically significant differences( P〈0. 05); compared with control group,Hb value in neonates with silent α-thalassemia and Hb,MCV,and MCH values in neonates with β+thalassemia had no statistically significant difference( P〉0. 05). Conclusion:The study enriches hematological data of neonatal thalassemia and has important significance in genetic guidance of neonatal thalassemia.
出处 《中国妇幼保健》 CAS 2015年第25期4345-4347,共3页 Maternal and Child Health Care of China
基金 广西科学研究与技术开发计划项目〔桂科攻14124004-1-5〕 广西壮族自治区卫生厅自筹经费科研课题〔Z2014146〕
关键词 新生儿 血液学指标 地中海贫血 基因类型 Neonate Hematological index Thalassemia Gene type
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