ATRX and thalassemia: ATRX syndrome primarily arises from ATRX mutations, which extensively disrupt neuronal cell development (Bérubé et al., 2005; Ritchie et al., 2008; Medina et al., 2009) and dysregulate α-globin transcription, mirroring the clinical manifestations observed in individuals with α-thalassemia (Ratnakumar et al., 2012; Li et al., 2016).