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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.
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