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目的分析血红蛋白H病(HbH)复合β-地中海贫血患者及单纯HbH病患者基因类型及血液学特征。方法选取本地区妇幼保健院和桂林医学院附属医院在2014年12月至2016年12月确诊为HbH的187例患者为研究对象。利用血红细胞分析仪、高效液相色谱技术对红细胞参数、血红蛋白(Hb)给予检测;利用单管多重PCR体系扩增与琼脂糖凝胶电泳对缺失型α-地中海贫血基因予以有效检测;利用反向点杂交技术对α-地中海贫血突变基因位点及17种常见β-地中海贫血突变基因位点予以检测。结果单纯缺失型HbH病患者与缺失型HbH复合β-地中海贫血患者的Hb及平均红细胞体积(MCV)差异显著(P均<0.05),但平均红细胞血红蛋白含量(MCH)无显著差异(P>0.05)。单纯非缺失型HbH病患者与非缺失型HbH复合β-地中海贫血患者的Hb、MCV、MCH差异均有统计学意义(P均<0.05)。相较于单纯HbH病患者,HbH并复合β-地中海贫血患者的HbA2明显较高(P<0.05)。结论当患者的MCV下降且没有HbH或HbA2正常,均需接受α、β珠蛋白基因分析。
Objective To analyze the genotypes and hematological characteristics of patients with hemoglobin H disease (HbH) complicated with β-thalassemia and simple HbH disease. Methods A total of 187 patients with HbH diagnosed in MCH and Guilin Medical College Affiliated Hospital from December 2014 to December 2016 were selected as the study subjects. The hematocrit and hemoglobin (Hb) were detected by hematology analyzer and high performance liquid chromatography (HPLC). The single-tube multiplex PCR amplification and agarose gel electrophoresis were used to detect the deletion type α-thalassemia gene effectively. To point hybridization of α-thalassemia mutation loci and 17 kinds of common β-thalassemia mutation locus to be detected. Results There were significant differences in Hb and mean corpuscular volume (MCV) between patients with and without HbH-β-thalassemia (P <0.05), but there was no significant difference in mean hemoglobin content (MCH) ). Hb, MCV and MCH in patients with simple non-deletional HbH and non-deletional HbH combined with β-thalassemia were significantly different (all P <0.05). HbA2 was significantly higher in patients with HbH and complex β-thalassemia than in patients with HbH alone (P <0.05). CONCLUSIONS: Alpha and beta globin gene analysis is required when the patient’s MCV is reduced and no HbH or HbA2 is normal.