目的　了解血红蛋白 Quong Sze的基因突变特点。方法　1例血红蛋白113 g/L，平均红细胞体积66.5 fl，平 均血红蛋白含量21.6 pg，疑似地中海贫血的5岁男孩，在采用PCR技术检测3种常见α地中海贫血和17种β-地中海贫 血基因未发现异常后，再采用二代测序方法进行基因检测及验证。结果　检测到患儿携带α地中海贫血杂合突变，HBA2 c.377T＞C，来自父亲，确诊血红蛋白 Quong Sze。结论　二代测序可诊断常规基因检测未见异常的血红蛋白 Quong Sze 型地中海贫血。

　Objective　To explore the mutation characteristics of HB Quong Sze. Methods　A 5-year-old boy was suspected with thalassemia and had a hemoglobin of 113 g/L, a mean corpuscular volume of 66.5 fl and a mean hemoglobin content of 21.6 pg. The PCR was used to detect 3 common forms of alpha-thalassemia and 17 beta-thalassemia genes , and no abnormalities were found. Then the next-generation sequencing was used for gene detection and verification. Results　A heterozygous mutation of α thalassemia, HBA2 c.377T > C, was detected in the patient, which came from the father, and HB Quong Sze was confirmed. Conclusion　Next-generation sequencing can diagnose HB Quong Sze type thalassemia which has no abnormalities in conventional genetic testing.