Alpha-thalassemia/mental retardation syndrome, x-linked
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What is the life expectancy for alpha-thalassemia X-linked intellectual disability syndrome?
Because alpha-thalassemia X-linked intellectual disability syndrome is a rare condition, there is not a lot of information about how long affected individuals live. Many affected males have been known to live well into adulthood, but there are also reports of some passing away as young boys, often under the age of 5. The most frequent reason for early death is pneumonia. These types of respiratory infections are likely connected to the frequent feeding/swallowing problems seen in these individuals, leading to food going into the lungs.
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Can alpha-thalassemia X-linked intellectual disability syndrome be diagnosed prenatally?
Can alpha-thalassemia X-linked intellectual disability syndrome be diagnosed prenatally?
Typically the diagnosis of alpha-thalassemia X-linked intellectual disability syndrome is made after birth. However, if there is already a family history of this disorder, and especially if a woman is known to be a carrier of a causative change in the ATRX gene, prenatal diagnosis is possible. This can be done as early as 10 weeks gestation through a procedure known as chorionic villus sampling or around 15 weeks or later through a procedure known as amniocentesis. Before proceeding with such testing, it is recommended that any pregnant woman at risk for offspring with this disorder meet with a genetic counselor to discuss the benefits, risks and limitations of her testing options. Genetic counselors can be found on the National Society of Genetic Counselors website.
