Alpha thalassaemia mental retardation (ATR-X): An atypical family

Abstract

A novel form of severe, X linked mental retardation associated with α thalassaemia (ATR-X syndrome) has recently been described. Two affected cousins are described, one of whom has an unusually mild haematological phenotype. HbH inclusions, which are the hallmark of this disease, were only detected in the peripheral red blood cells after repeated observations.