Most affected boys have alpha thalassemia, a form of anemia resulting from a defect in the production of a component of hemoglobin called alpha globin. A feature of the alpha thalassemia is the presence of hemoglobin H inclusions in the red blood cells which gives them a tell-tale appearance under the microscope. This is the basis of a simple blood test which, if positive, confirms the diagnosis of ATR-X."

NOTE: Not all boys with ATR-X syndrome have Alpha Thalassemia; however, 85% of them do.

Affected boys have severe learning difficulties and milestones are delayed. Speech is usually not achieved. Affected boys tend to suffer frequent colds and recurring chest infections. Most boys have genital abnormalities, most frequently undescended testes. Feeding problems and regurgitation are commonly present. Sleep disturbance and mouthing may occur in some children. World-wide, there are as many as 200+ identified with this condition. The underlying gene has been identified.

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