β-地中海贫血34例临床与实验室特点分析

The Lab and Clinical Features of 34 β-Thalassemia

目的:讨论地中海贫血基因型与临床表现的关系及常见基因型别。方法:测定34例患儿血液分析、血清铁、血红蛋白电泳、HbA2,详细记录临床表现,使用β-地中海贫血寡核苷酸探针阵列用荧光斑点杂交法对患者进行基因分析,并进行统计学处理。结果:患儿的临床表现、发病时间与β-地中海贫血基因突变的数量有关,而与基因型别无关。结论:β-地中海贫血均为小细胞低色素性贫血,多有HbF与HbA2增加,重型多为HbF增加,而轻型HbA2都超过3.5%。本组患儿基因型以17(A-T)、41-42(-TTCT)多见。

Objective：To study the relationship between lab and clinical feature of 34 β-thalassemia in Chongqing and Sichuan.Methods：34 peripheral blood samples were detected by automatic blood analyzer system;serum iron concentration,hemoglobin electrophoresis,HbF and HbA2 in the cases were also detected.PCR and reverse dot blot were used to ensure the mutation of genotype ofβ-thalassemia.Results：It was not the molecular basis but the number of mutations of genotypes determined the clinical features and onset of anemia.Conclusion：The patients are microcytic hypochromic anemia with increasing HbF and HbA2 level.The mutations of 17（A-T）,41-42（-TTCT） are common in this group.