论文部分内容阅读
目的分析血红蛋白H病(Hb H病)复合β-地中海贫血患者及单纯Hb H病患者基因类型及血液学特征,为实验室检测、遗传咨询、产前诊断和产前干预提供指导和依据。方法分别采用血细胞分析仪和高效液相色谱技术检测红细胞参数及血红蛋白组分。?用单管多重PCR体系扩增结合琼脂糖凝胶电泳检测缺失型α-地中海贫血基因(--sea、-α3.7、-α4.2),采用反向点杂交技术检测α-地中海贫血突变基因位点(CS(CD142TAA→CAA),QS(CD125CTG→CCG),WS(CD122CAA→CAG))和17种常见的β-地中海贫血突变基因位点。结果 Hb H病复合β-地中海贫血患者血红蛋白(Hb)显著高于单纯Hb H病,而其平均红细胞体积(MCV)则显著低于单纯Hb H病,复合β-地中海贫血使Hb H和Hb CS的表达显著减少。约30%的患者血红蛋白A2(Hb A2)含量正常。结论对于MCV降低而又没有Hb H或Hb A2正常的患者,都应该进行α和β珠蛋白基因分析。
Objective To analyze the genotypes and hematological characteristics of patients with hemophilia H (Hb H) complicated with β-thalassemia and simple Hb H disease so as to provide guidance and basis for laboratory testing, genetic counseling, prenatal diagnosis and prenatal intervention. Methods Red blood cell parameters and hemoglobin components were detected by hematology analyzer and high performance liquid chromatography respectively. ? Single-tube multiplex PCR amplification and agarose gel electrophoresis detection of missing α-thalassemia genes (--sea, -α3.7, -α4.2), reverse dot blot detection of α-thalassemia (CS (CD142TAA → CAA), QS (CD125CTG → CCG), WS (CD122CAA → CAG) and 17 common β-thalassemia mutations. Results Hemoglobin (Hb) in patients with Hb H-combined β-thalassemia was significantly higher than that of Hb H and the mean volume of erythrocytes (MCV) was significantly lower than that of Hb H and the composite of β-thalassemia Hb H and Hb CS Significantly reduced the expression of. About 30% of patients with normal hemoglobin A2 (Hb A2) content. Conclusions Alpha and beta globin gene analysis should be performed in patients with reduced MCV but without normal Hb H or Hb A2.