Can thalassemia cause mental retardation?
This condition occurs almost exclusively in males. Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words.
What is ATR-X syndrome?
Summary. Listen. Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness ( hypotonia ), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms.
Which X-linked recessive disorder is the most common cause of inherited mental disability?
In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of intellectual disability in women.
What symptoms are expressed in a child affected with thalassemia?
Thalassemia signs and symptoms can include:
- Pale or yellowish skin.
- Facial bone deformities.
- Slow growth.
- Abdominal swelling.
- Dark urine.
Is Alpha thalassemia a rare disease?
Affected Populations Severe forms of alpha thalassemia (HbH disease and Hb Bart’s hydrops fetalis) have been estimated to occur in approximately 1 in 1,000,000 individuals in the general population in Northern Europe and North America.
Why is mental retardation more common in males?
Mental retardation is more common in males than females in the population, assumed to be due to mutations on the X chromosome. The prevalence of the 24 genes identified to date is low and less common than expansions in FMR1, which cause Fragile X syndrome.
How does alpha thalassemia X linked intellectual disability ( ATRX ) work?
Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness ( hypotonia ), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms. It is caused by mutations in the ATRX gene and is inherited in an x-linked way.
Are there any synonyms for alpha thalassemia X?
Synonyms of Alpha Thalassemia X-linked Intellectual Disability Syndrome. ATR-X syndrome. Carpenter-Waziri syndrome. cerebrofaciogenital syndrome. Chudley-Lowry syndrome. Holmes-Gang syndrome. XLID-hypotonic face syndrome. X-linked intellectual disability – arch fingerprints- hypotonia syndrome.
Can a mutation in alpha thalassemia X be inherited?
If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition. If the mutation was inherited from his mother, each of his mother’s sisters has a 50% of being a carrier of ATRX syndrome.
How are family members affected by ATRX syndrome?
The chance that a relative may have ATRX syndrome depends on whether the mutation in the first affected family member was inherited from his mother or happened by chance (a de novo mutation ). If the mutation happened by chance, there is very little risk that other relatives could be affected by this condition.