Alpha thalassaemia mental retardation (ATR-X): an atypical family. Issue 5 (May 1994)

• Record Type: Journal Article
• Authors: Logie, L J; Gibbons, R J; Higgs, D R; Brown, J K; Porteous, M E
• Is Part Of: Archives of disease in childhood. Volume 70:Issue 5(1994)
• Page Start: 439
• Page End: 440
• Publication Date: 1994-05
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.70.5.439
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : 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.