目的 探讨β地中海贫血（地贫）合并α珠蛋白基因三联体致中间型地贫的诊断。方法 回顾分析2例β 杂合子患儿的临床资料，以及患儿外周血β珠蛋白基因测序及α珠蛋白基因三联体检测结果。结果 例1，女，4岁，为 βCD 41 - 42杂合子；例2，男，13岁，为βCD 17杂合子。2例患儿的临床表现均为中重度贫血、肝脾肿大，β珠蛋白基因测序未 发现罕见变异点。例1的Gap-PCR特异性引物检测αααanti4.2片段阳性，例2荧光定量PCR相对定量检测αααanti3.7片段阳性。 结论 β杂合子且未见罕见变异，但临床表现为中重度贫血时，应考虑存在α珠蛋白基因三联体。

Objective To investigate the clinical diagnosis of thalassemia intermediate caused by β-thalassemia with α-globin gene triplication. Methods The clinical manifestations of two β-thalassemia heterozygotes were retrospectively analyzed, and the results of β-globin gene sequencing and α-globin gene triplication detection in peripheral blood were also analyzed. Results Case one is a 4 years old girl, and the routine thalassemia gene detection revealed that she was a βCD 41 - 42 heterozygote. Case two was a 13 years old boy, he was a βCD 17 heterozygote detected by routine thalassemia gene sequencing. The clinical manifestations of both cases were moderate to severe anemia with hepatosplenomegaly. No rare mutation was found in β-globin by sequencing. Triplication αααanti4 . 2 fragment was found in case one by Gap-PCR using specific primers. The αααanti3 . 7 fragment was positive in case two by qPCR relative quantification. Conclusion When the result of routine detection indicated beta heterozygote, but with moderate to severe anemia, if there is no rare mutation found by sequencing, the existence of α-globin gene triplication should be considered.