What is a genetic disorder or disease?
Genetic diseases are caused due to abnormalities in genes or the genetic material of an individual. Genetic diseases are generally hereditary are caused due to mutation or other environmental factors. Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients.
Genetic Diseases
Haemophilia
Haemophilia is a blood condition in which an essential clotting factor is either partly or completely missing. This causes a person with haemophilia to bleed for longer than normal. Cuts and grazes are not great problems as a little pressure and a plaster are usually enough to stop bleeding.
The blood of a person with hemophilia does not clot normally. He does not bleed more profusely or more quickly than other people; however, he bleeds for a longer time.
Angelman syndrome
The Angelman synthesis symptom is affects the nervous system the complex gene to be chaotic. Angelman Syndrome is a classic example of genetic imprinting caused by deletion or inactivation of critical genes on maternally inherited chromosomes. This gene is the existence in the mother and the father chromosome, but differently in methylation style. Other causes include uniparental disomy, translocation, or single gene mutation in that region.
Angelman Syndrome
Angelman syndrome (AS) is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements especially hand-flapping, frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15.
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