中文摘要：

目的：探讨重型β-地中海贫血的基因突变类型及临床情况。方法：应用聚合酶链式反应（PCR）、反向点杂交法（RDB）技术对34例重型β-地中海贫血患者进行基因突变类型的检测。结果：23种β-地中海贫血基因突变类型中检测出9种基因型12种组合，其中纯合子14例，双重杂合子19例，β-地中海贫血复合HbE1例。结论：34例重型β-地中海贫血患者基因突变类型与广西β-地中海贫血基因分型的情况相符。β-地中海贫血遗传机制及临床表现相当复杂，基因检测技术的运用对于地中海贫血的临床诊断及治疗具有重要的意义。

英文摘要：

Objective： To explore the gene mutation and clinical feature of major β-thalassemia. Methods： Polymerase chain reaction（PCR） and reverse dot blot（RDB） were used to measure β-globin gene mutation in 34 patients with major β-thalassemia. Result： There were 9 types with 12 gene combinations tested from 23 types of β-thalassemia gene mutation, including homozygotes（14 cases）, compound hetarozygotes （19 cases）, and β-thalassemia/HbE. Conclusion： Genotypes of 34 patients with major β-thalassemia are the same with that in Guangxi. The genetic mechanism and clinical feature of β-thalassemia are very complicated, and it is very important to apply the technique of genotype analysis to the clinical diagnosis and treatment of β-thalassemia.