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Alpha Thalassaemia – Mental Retardation on the X-chromosome
Background
Alpha Thalassaemia (Alpha Thalassemia - USA) - Mental Retardation on the X-chromosome: Alpha Thalassaemia Mental Retardation syndrome; Mental Retardation on the X-chromosome; ATR-X
ATR-X syndrome is an inherited condition which affects boys. The effects of the condition include learning difficulties, a characteristic facial appearance and mild anaemia. The anaemia results from a mild form of thalassaemia similar to, but quite distinct from, ß thalassaemia (see entry Thalassaemia Major) which is common in the Mediterranean and South-East Asian regions and is not associated with learning difficulties.
Over 150 affected families have been identified with this condition worldwide. The underlying gene was identified in 1995.
