Learn About Alpha Thalassemia X-Linked Intellectual Disability Syndrome

What is the definition of Alpha Thalassemia X-Linked Intellectual Disability Syndrome?

Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.

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What are the causes of Alpha Thalassemia X-Linked Intellectual Disability Syndrome?

Alpha thalassemia X-linked intellectual disability syndrome results from mutations in the ATRX gene. This gene provides instructions for making a protein that plays an essential role in normal development. Although the exact function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (expression) of other genes. Among these genes are HBA1 and HBA2, which are necessary for normal hemoglobin production.

How prevalent is Alpha Thalassemia X-Linked Intellectual Disability Syndrome?

Alpha thalassemia X-linked intellectual disability syndrome appears to be a rare condition, although its exact prevalence is unknown. More than 200 affected individuals have been reported.

Is Alpha Thalassemia X-Linked Intellectual Disability Syndrome an inherited disorder?

This condition is inherited in an X-linked recessive pattern. The ATRX gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), one working copy of the ATRX gene can usually compensate for the mutated copy. Therefore, females who carry a single mutated ATRX gene almost never have signs of alpha thalassemia X-linked intellectual disability syndrome.

Who are the top Alpha Thalassemia X-Linked Intellectual Disability Syndrome Local Doctors?
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University Of Oxford

Mrc Weatherall Institute Of Molecular Medicine 
Oxford, ENG, GB 

Richard Gibbons is in Oxford, United Kingdom. Gibbons is rated as an Elite expert by MediFind in the treatment of Alpha Thalassemia X-Linked Intellectual Disability Syndrome. He is also highly rated in 8 other conditions, according to our data. His top areas of expertise are Alpha Thalassemia X-Linked Intellectual Disability Syndrome, Alpha Thalassemia, Thalassemia, and Hemolytic Anemia.

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Institute Of Molecular Embryology And Genetics

Kumamoto University 
Kumamoto, JP 

Norifumi Shioda is in Kumamoto, Japan. Shioda is rated as an Elite expert by MediFind in the treatment of Alpha Thalassemia X-Linked Intellectual Disability Syndrome. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Alpha Thalassemia X-Linked Intellectual Disability Syndrome, Alpha Thalassemia, Thalassemia, and Memory Loss.

 
 
 
 
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Elite
Highly rated in
8
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Kyoto University School Of Public Health

Kyoto, JP 

Takahito Wada is in Kyoto, Japan. Wada is rated as an Elite expert by MediFind in the treatment of Alpha Thalassemia X-Linked Intellectual Disability Syndrome. They are also highly rated in 8 other conditions, according to our data. Their top areas of expertise are Alpha Thalassemia X-Linked Intellectual Disability Syndrome, Alpha Thalassemia, X-Linked Creatine Deficiency, and Schizencephaly.

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Who are the sources who wrote this article ?

Published Date:updated Last, August

Published By: National Institutes of Health

What are the Latest Advances for Alpha Thalassemia X-Linked Intellectual Disability Syndrome?
ATR-X syndrome: genetics, clinical spectrum, and management.
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