In addition to the hematologic abnormality alpha-thalassemia, ATRX gene mutations also result in mental retardation, microcephaly, dysmorphic features, genital and renal abnormalities, growth deficiency, seizures, spasticity, gastrointestinal dysfunction, and kyphoscoliosis and other skeletal abnormalities [31-34]. The gene discussed is ATRX; the disease is Alpha-thalassemia.