ATR-X 综合征是一种与 X 染色体相关的具α地中海贫血症状的智力低下(ATR综合征)。该综合征的临床特征主要有:严重智力障碍、脸形异常和生殖器异常。患者有轻度HbH 病,应用1％BCB 温育的红细胞中可见 HbH 包涵物,该综合征携带者 RBC 中亦可检出少量 HbH 包涵物。本文对迄今公开发表的16份病例资料进行了综合分析,认为该综合征是由于某些位于 X 染色体上控制α珠蛋白基因表达的因子失活所致。 ATR-X syndrome is a mental retardation (ATR syndrome) associated with the X chromosome associated with alpha thalassemia. The clinical features of the syndrome are: severe mental retardation, facial abnormalities and genital abnormalities. Patients with mild HbH disease, the application of 1% BCB incubation of red blood cells can be seen in HbH inclusions, carriers of this syndrome can also be detected in a small amount of RBC HbH inclusions. In this paper, a total of 16 published case data were comprehensively analyzed and considered to be caused by the inactivation of some factors that control the expression of alpha-globin gene on the X chromosome.