448例β-地中海贫血的基因型与临床分析

目的 　探讨β -地中海贫血基因突变与临床病情的关系。方法 　应用PCR-RDB技术对 4 48例β -地中海贫血患儿进行基因诊断。结果 　检测出 1 2种基突变类型 ,有 2 4种基因组合形式。结论 　β。 纯合子及β° β°双重杂合子临床表现重 ,发病年龄、输血年龄均较早 ,β° β+双重杂合子表现为中间型或重型 ,发病年龄及输血年龄均较晚。

Analysis of genotypes and clinical manifestations of 448 patients with β - thalassemia.

Objective To explore the relationship between gene mutation of β - thalassemia and clinical manifestations. Methods Polymerase chain reaction and reverse dot blot were used to study molecular characterization of β - globin gene mutation in 448 patients with β - thalassemia. Results Twelve different mutalion were identified, there were twenty-three different gene types.Conclusion The homozygote β° and β°/β° had severe clinical course, earlier onset and earlier blood transfusion. The dual heterozygotes β°/β + had moderate orsevere clinical couse, later onset and later blood transfusion.