Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

A novel form of severe, X linked mental retardation associated with alpha 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.

Type

Journal article

Journal

Arch Dis Child

Publication Date

05/1994

Volume

70

Pages

439 - 440

Keywords

Adolescent, Facial Bones, Genetic Linkage, Hemoglobin H, Humans, Infant, Newborn, Intellectual Disability, Male, Pedigree, Skull, X Chromosome, alpha-Thalassemia