Is Alpha thalassemia trait a disability?
Is Alpha thalassemia trait a disability?
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.
What causes ATRX syndrome?
What Causes It? ATR-X syndrome is caused by changes, known as mutations, in a gene called ATRX that’s passed from parent to child. The ATRX gene plays a role in a child’s development. Any defect can lead to changes that cause intellectual disability and other symptoms of the disease.
What is ATRX mutation?
ATRX mutation is associated with loss of ATRX by immune staining, which is increasingly used in neuropathological assessment of human gliomas. ATRX, α thalassemia/mental retardation syndrome X-linked; SNV, single nucleotide variant.
Is thalassemia dominant or recessive?
Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern , which means both copies of the HBB gene in each cell have mutations.
What is alpha thalassemia silent carrier?
Alpha thalassemia silent carrier. One gene is missing or damaged, and the other 3 are normal. Blood tests are usually normal. Your red blood cells may be smaller than normal. Being a silent carrier means you don’t have signs of the disease, but you can pass the damaged gene on to your child.
How does thalassemia affect you intellectually?
Living with a long-term condition that needs on-going management can have a negative impact on mental health. Uncertainty over what the future may hold can lead to feelings of anxiety and stress. Some studies have shown that children with thalassemia experience higher than usual levels of depression and anxiety.
Which mental illness is found almost exclusively in males?
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.
What is ATRX positive?
Near total loss of nuclear staining for ATRX in tumor cells (>90%) was considered positive for ATRX mutation.  Cases showing negative tumor cells with negative internal control (endothelial cells, neurons) were not evaluated for further analysis.
What is ATRX?
ATRX is a chromatin remodeling protein whose main function is the deposition of the histone variant H3. 3. ATRX mutations are widely distributed in glioma, and correlate with alternative lengthening of telomeres (ALT) development, but they also affect other cellular functions related to epigenetic regulation.
Can thalassemia appear later in life?
When the disorder develops later during life, a diagnosis of beta thalassemia intermedia is given; individuals may only require blood transfusions on rare, specific instances. Beta thalassemia major, also known as Cooley’s anemia, is the most severe form of beta thalassemia.
How does ATR-X syndrome affect the body?
ATR-X syndrome is caused by changes, known as mutations, in a gene called ATRX that’s passed from parent to child. The ATRX gene plays a role in a child’s development. Any defect can lead to changes that cause intellectual disability and other symptoms of the disease. ATR-X syndrome almost only affects boys.
Is ATR X syndrome dominant or recessive?
Causes. ATR-X syndrome is inherited as an X-linked recessive genetic condition. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder.
Can a male with ATR-X syndrome reproduce?
No male with ATR-X is known to have reproduced. ATR-X syndrome occurs due to disruption or changes (mutations) to the ATRX gene located on the long arm (q) of the X chromosome (Xq13.3). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.
What is alpha-thalassemia X-linked intellectual disability (ATRX)?
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.