Alpha-thalassemia/mental retardation syndrome, x-linked

Diagnosis and Testing

How do I get tested for alpha-thalassemia X-linked intellectual disability syndrome?

A doctor may suspect alpha-thalassemia X-linked intellectual disability syndrome in a person (usually a male) who has specific physical and developmental symptoms, such as characteristic facial features, microcephaly (small head), anomalies of the genitalia, anomalies of the skeletal system (short stature, clubfoot, sunken chest, curved spine, abnormally developed fingers), severe to profound intellectual disability, and blood test results suggestive of alpha-thalassemia (specific type of anemia). The blood tests that are used to diagnose alpha-thalassemia include looking at the size of the person's red blood cells and looking for the presence of HbH inclusions (an abnormal type of globin molecule found in people with alpha-thalassemia X-linked intellectual disability syndrome that causes problems with the transport oxygen and iron through the bloodstream).

Because many other genetic conditions have similar symptoms to alpha-thalassemia X-linked intellectual disability syndrome, the only way to know for sure if a person has this specific condition is through molecular genetic testing (looking at the person's DNA for changes in the person's ATRX gene). Depending on what symptoms are present in a person, testing may be done on just the ATRX gene, on a whole panel of genes that are responsible for many different conditions that are similar to alpha-thalassemia X-linked intellectual disability syndrome, or even on a person's whole genome (complete set of DNA including all genes) to confirm the diagnosis. The best person to help figure out if a person has alpha-thalassemia X-linked intellectual disability syndrome is a medical geneticist (doctor) or genetic counselor who are specially trained to diagnose, treat, and support families who have, or are suspected to have, genetic conditions. To find a medical genetics professional in your area, you may wish to ask for a referral from your regular doctor or other doctors in the area. GA medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

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Who else in my family should I test for alpha-thalassemia X-linked intellectual disability syndrome?

Who else in my family should I test for alpha-thalassemia X-linked intellectual disability syndrome?

If an individual has been diagnosed with alpha-thalassemia X-linked intellectual disability syndrome by genetic testing (confirmed to have a change or mutation in the ATRX gene), other relatives can be tested. The relatives who would benefit most from testing are other males with symptoms of the condition who are related through females to the person with the ATRX gene mutation, and females who are at risk to be carriers.

Prenatal diagnosis for pregnancies at increased risk is possible if the mutation in the ATRX gene in the family is known. This can be done during the pregnancy by testing of fetal cells obtained through CVS (chorionic villus sampling), performed between 10 to 13 weeks of pregnancy, or amniocentesis, performed between 15 to 20 weeks of pregnancy.

A medical geneticist and/or a genetic counselor is the best person to help identify appropriate individuals for testing as well as the most appropriate way to test those family members. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

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