中文摘要：

目的分析血红蛋白H病（HbH病）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，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。采用单管多重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→4CCG），WS（CD122CAA→CAG））和17种常见的β-地中海贫血突变基因位点。结果HbH病复合β-地中海贫血患者血红蛋白（Hb）显著高于单纯HbH病，而其平均红细胞体积（MCV）则显著低于单纯HbH病，复合β-地中海贫血使HbH和HbCS的表达显著减少。约30％的患者血红蛋白A2（HbA2）含量正常。结论对于MCV降低而又没有HbH或HbA2正常的患者，都应该进行α和β珠蛋白基因分析。

英文摘要：

Objective To analyze the genotypes and hematological characteristics of the patients with hemoglobin H （HbH） disease combined with β-thalassemia and the patients with simple HbH disease, provide guidance and basis for laboratory test, genetic counseling, prenatal diagnosis, and prenatal intervention. Methods Blood cell analyzer and high performance liquid chromatography were used respectively to detect erythroeyte parameters and hemoglobin component. Single-tube multiplex PCR amplification combined with agarose gel eleetrophoresis were used to detect deletion type α-thalassemia genes （ --sea, α3.7, -α4. 2）, reverse dot blot was used to detect mutation gene loci of α-thalassemia [ CS （CD142TAA→CAA）, QS （ CD125CTG→CCG）, WS （CD122CAA→CAG） ） and 17 kinds of common mutation gene loci of β-thalassemia. Results The level of hemoglobin （Hb） in patients with HbH disease combined with α-thalassemia was significantly higher than that in patients with simple HbH disease; mean corpuscular volume （MCV） in patients with HbH disease combined with β-thalassemia was significantly lower than that in patients with simple HbH disease; the expression levels of HBH and HBCS in patients with HbH disease combined with β-thalassemia decreased significantly; about 30% of the patients were found with normal hemoglobin A2 （HbA2） levels. Conclusion For the patients with low MCV and without HbH disease or with normal HbA2, α and β globin gene analysis is necessary.