Alpha-thalassemia x-linked intellectual disability Syndrome

8 long months after we did the Whole Genome Sequencing (WGS) test, and the results are out..

To save you from having to google.. let me summarize it for you. More like I just extracted it wholesale from a Yahoo Support Group..

ATR-X Syndrome is an inheritable condition which affects only boys. The effects of the condition include mental retardation, a characteristic facial appearance and mild anaemia. The anaemia results from a mild form of thalassemia.
Most affected boys have alpha thalassemia, a form of anaemia resulting from a defect in the production of a component of haemoglobin called alpha globin. A feature of the alpha thalassemia is the presence of haemoglobin 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.  (Yes)

Speech is usually not achieved.  (Yes)

Mild to moderate hearing loss (Yes)

Affected boys tend to suffer frequent colds and recurring chest infections.  (Kind of)

Most boys have genital abnormalities, most frequently undescended testes. (This is really don’t quite know)

Feeding problems and regurgitation are commonly present. (Yes)

Sleep disturbance. (He has good nights and bad nights)

Mouthing may occur in some children.(Waiting for it to happen)

World-wide, there are 
as many as 200+ identified with this condition. The 
underlying gene has been identified.


So how? 


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