中文摘要：

目的探讨β-地中海贫血基因突变型与益髓生血颗粒疗效的相关性。方法收集β-地中海贫血47例。男28例，女19例；年龄3—15岁。其中重型β-地中海贫血34例，中间型13例。均检查血液学指标及行血红蛋白电泳，基因分析采用PCR反向斑点杂交技术，治疗采用益髓生血颗粒10g／次，3次／d，3个月为1个疗程，疗程结束进行疗效评价。结果47例β-地中海贫血中有7种β基因突变类型。其中复合血红蛋白E（HbE）占18例；中药治疗后43例临床症状明显改善，Hb、RBC、网织红细胞（Ret）及胎儿血红蛋白（HbF）值均增高，治疗前后比较差异显著（Pa〈0．01）。其中β一纯合子21例中17例有效，β°与β^＋双重杂合子7例、β-地中海贫血与地中海贫血HbE杂合子18例、1例β^＋纯合子均有效。结论益髓生血灵颗粒治疗β-地中海贫血有较好疗效。

英文摘要：

Objective To investigate the relationship between mutation types in β - thalassemia and therapeutic effect of yisuishengxue granules. Methods Forty - seven patients of β - thalassemia were from 3 to β years old. β - thalassemia major patients were 34 cases,β - thalassemia intermedia patients were 13 cases. All of 47 patients were analyzed by blood routine examination and hemoglobin electrophoresis. Genes were detected by PCR reverse dot blot. Forty - seven patients were administrated by yisuishengxue granules （ 10 g per time, thrice per day for 3 months）, elvaluation of the result was carried out. Results Forty - seven patients of β - thalassemia had 7 gene mutation types and 18 patients of them complicated HbE. After treatment, there was significant improvement in clinical symptom, the number of Fib, RBC, reticulooyte （ Ret）, fetal hemoglobin （HbF） （ Pa 〈 0.01 ）. Twenty - one cases of β - thalassemia patients of β° homozygote, 17 cases were effective certainly. Seven cases of β° and β^ ＋ double heterozygous and 18 cases of β - Thal/HbE were effective. One case of β - thalassemia patients with β^ ＋ homozygote was response. Condusion Chinese traditonal medicine（ Yisuishengxue granules） treating β - thalassemia is effective.