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Alpha Thalassaemia - Mental Retardation on the X Chromosome

Background

Alpha Thalassaemia (Alpha Thalassemia - US) - Mental Retardation on the X-Chromosome: Alpha Thalassaemia Mental Retardation syndrome; Mental Retardation on the X-Chromosome; ATR-X

ATR-X syndrome is an inheritable 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 Asia and is not associated with learning difficulties.

World-wide, over one hundred and fifty affected families have been identified with this condition.The underlying gene was identified in 1995.

What are the symptoms? View What are the symptoms?

Medical text written February 1993 by Dr D Higgs and Dr R Gibbons, MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford UK. Last updated June 2007 by Dr R Gibbons, MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.

 

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