Alpha-Thalsimius X-Linked Intellectual Disability Syndrome

H B Conson Spring is a prototype of several pathogenic variants, some relatively common. It results from a single base substitution that converts the normal UAA translation termination codon and the alpha-globin mRNA into a sense codon coding for an amino acid. And it's primarily seen in Southeast Asian ancestry. They have more significant anemia than in the deletional forms, often requiring transfusions.