Alpha Thalassemia X-Linked Intellectual Disability SyndromeSymptoms, Doctors, Treatments, Advances & More
Alpha Thalassemia X-Linked Intellectual Disability Syndrome Overview
Learn About Alpha Thalassemia X-Linked Intellectual Disability Syndrome
View Main Condition: Thalassemia
Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects intellectual functioning, red blood cells, and other body systems. This condition occurs almost exclusively in males.
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the ATRX gene cause alpha thalassemia X-linked intellectual disability syndrome. The ATRX gene provides instructions for making a protein that plays an essential role in normal development. The ATRX protein has many functions, such as helping to repair DNA damage and regulating the activity (expression) of other genes. Two of the genes that the ATRX protein helps regulate are HBA1 and HBA2, which are necessary for normal hemoglobin production.
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 in the scientific literature. Because the signs and symptoms of alpha thalassemia X-linked intellectual disability syndrome overlap with those of many other conditions, it can be challenging to diagnose.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the altered gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), a pathogenic variant in the only copy of the gene in each cell is sufficient to cause the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. It is estimated that 80 to 90 percent of males with alpha thalassemia X-linked intellectual disability syndrome inherit the ATRX gene variant from their mother. The remaining cases of this condition result from new (de novo) variants in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's mother or in early embryonic development.
Takahito Wada practices practicing medicine 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 9 other conditions, according to our data. Their clinical expertise encompasses Alpha Thalassemia X-Linked Intellectual Disability Syndrome, Alpha Thalassemia, X-Linked Creatine Deficiency, and Leukemoid Reaction.
Nathalie Berube practices practicing medicine in London, Canada. Ms. Berube is rated as an Elite expert by MediFind in the treatment of Alpha Thalassemia X-Linked Intellectual Disability Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Alpha Thalassemia X-Linked Intellectual Disability Syndrome, Alpha Thalassemia, Thalassemia, and Memory Loss.
David Picketts practices practicing medicine in Ottawa, Canada. Mr. Picketts 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 5 other conditions, according to our data. His clinical expertise encompasses Alpha Thalassemia X-Linked Intellectual Disability Syndrome, Borjeson-Forssman-Lehmann Syndrome, Somatostatinoma, and Alpha Thalassemia.
Published Date: June 04, 2026
Published By: National Institutes of Health