中文摘要：

目的探讨β^0合子β地中海贫血的基因突变类型及使用中药益髓生血颗粒（CTM）治疗的临床效果。方法采用反向斑点杂交技术进行基因检测诊断为β^0合子β地中海贫血21例。男13例,女8例;年龄4～16岁,平均9.5岁。应用CTM治疗,10g/次,3次/d,3个月为1个疗程。结果21例患儿有5种基因突变类型,其中密码子41-42（-TTCT）框架位移最多,占52%。经治疗后症状改善,Hb、RBC、Ret及胎儿血红蛋白（HbF）值均有增高,治疗前后比较差异显著（Pa〈0.01）。结论CTM治疗β^0合子β地贫有一定效果。

英文摘要：

　Objective To explore mutant types of β^0homozygous thalassemia and clinical significance of Chinese traditional medicine.Methods There were 21 cases of β^0homozygous Thalassemia（male 13,female 8）diagnosed by gene analyzed by reverse dot blot（RDB）.Ages were 4-16 years（mean 9.5 years）.CTM were took orally 10 g per time,three per day.The one course of treatment was 3 months.Results Five mutant types were confirmed in 21 patients which including 52% frameshift mutation of 41-42（-TTCT）.After treatment,there was significant improvement in clinical symptom,the number of Hb,RBC,Ret,HbF（Pa〈0.01）.Conclusion CTM can be used in treating β^0homozygous thalassemia.