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To study the hematologic and molecular features of 14 patients with hemoglobin (Hb) variants, so as to provide reference data for its laboratory screening.A total of 1 029 samples were screened by high performance liquid chromatography (HPLC) on the Bio-Rad VariantⅡHPLC system. GAP-PCR and reverse dot blot (RDB) were used to detect common mutation of α and β globin gene in Chinese. DNA sequencing for α and β globin gene was simultaneously performed in samples with abnormal spectrum peak and negative thalassemia gene.In 1 029 samples, 10 types of structural Hb variants were detected in14 cases (1.36%), including 1 case of Hb E / β- thalassemia, 1 case of Hb E /α- thalassemia (HbH disease), 2 cases of HbG-Taipei, 2 cases of Hb Q-Thailand, 2 cases of Hb Youngstown, 1 case of Hb Guangzhou-Hangzhou, 1 case of Hb M-Boston, 1 case of Hb G-Siriraj, 1 case of Hb J-Baltimore, 1 case of Hb J-Sicilia and 1 case of Hb Tamano.The occurrence of abnormal structural Hb variants with many genotypes in Shanghai is unique. Except for Hb E, Hb Youngstown, and Hb M-Boston, other types of heterozygous are normal in phenotypes, and symptoms such as hemolysis and anemia often occur when other diseases are combined.异常血红蛋白病患者血液学表型和基因型分析.探讨14例异常血红蛋白（Hb）病患者的血液学和分子生物学特征，为异常Hb病的筛查提供参考数据。.应用高效液相色谱技术检测1 029例样本，采用缺口聚合酶链式反应技术和反向点杂交法检测中国人常见的α和β珠蛋白基因突变类型，对筛查出异常谱峰且常见地中海贫血基因阴性者的样本进行α和β珠蛋白基因DNA测序。.检测出14例（1.36%）共10种Hb变异体，分别为1例Hb E复合β-地中海贫血、1例Hb E复合α-地中海贫血、2例Hb G-Taipei、2例Hb Q-Thailand、2例Hb Youngstown、1例Hb Guangzhou-Hangzhou、1例Hb M-Boston、1例Hb G-Siriraj、1例Hb J-Baltimore、1例Hb J-Sicilia、1例Hb Tamano。.上海地区异常Hb病的发生存在一定独特性，基因种类较多。除Hb E、Hb Youngstown和Hb M-Boston外，其他类型单纯杂合子血液学表型正常，往往是在合并其他疾病时出现了溶血、贫血等症状。. |
