目的探讨β－地中海贫血患儿的临床和基因类型的关系。方法用反向点杂交法（ＲＤＢ）诊断患儿的基因突变点。临床按表现和血生化分为重、中间、轻３型。结果１６例重型患儿中，３例基因表型为β°纯合子，β°或β°／β＋双重杂合子１３例。５例中间型者中，４例基因表型为β°／β＋双重杂合子，１例为非典型β地中海贫血杂合子。结论β－地中诲贫血的临床类型与基因突变点密切相关。 Objective To investigate the clinical and genetic relationship of β-thalassemia children. Methods Reverse mutation (RDB) was used to diagnose the gene mutation in children. Clinical performance and blood biochemical divided into heavy, intermediate, light 3 type. Results Among the 16 children with severe type, the gene phenotypes were β ° homozygote and 13 cases of β ° or β ° / β + double heterozygote. Of the 5 cases of intermediate type, 4 cases had β ° / β + double heterozygote and 1 case had heterozygous atypical β-thalassemia. Conclusion The clinical type of β-thalassemia is closely related to the gene mutation.