Reproductive Genetics

Tay-Sachs Disease

Certain genetic disorders are more common in people of Ashkenazi (Eastern European) Jewish descent. These include Tay-Sachs disease, Canavan disease, cystic fibrosis, Niemann-Pick disease, Fanconi anemia, Bloom syndrome and Gaucher disease. Each of these diseases is caused by different genes, but all are inherited the same way. In order to inherit one of these disorders, there must be a mistake in both copies of the gene that is responsible for the disorder. Carriers have a mistake in one copy of the gene and do not have any symptoms. Your baby can have one of these diseases only if both parents are carriers for that disease.

  • Tay-Sachs disease is a deficiency of the enzyme hexosaminidase A and causes a harmful substance to build up in the brain. This leads to deterioration of mental and physical abilities and usually death by age 5. Tay-Sachs is also more common in families of French Canadian or Cajun descent.
  • Canavans disease is a progressive disorder of paralysis and blindness. Children usually die in early childhood.
  • Niemann-Pick disease causes poor growth and progressive mental and physical deterioration. Children usually die by 4 years of age.
  • Fanconi anemia is diagnosed in early childhood with low blood count, short height and learning disabilities or mental retardation. People with Fanconi anemia are also at high risk for cancer, especially leukemia.
  • Bloom syndrome causes poor growth, immune system problems and a high rate of cancer. Patients usually die by the age of 30 due to cancer.
  • Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase and causes enlargement of the liver and spleen and destruction of the bones. The more severe form can affect brain development as well. There are also mild forms of Gaucher disease that cause very mild symptoms.

If you are of Ashkenazi Jewish descent, your care provider may offer testing for these disorders. If you test positive for one of them, your partner should be tested for that disease. If your partner is also a carrier, there is a 1 in 4 chance (25%) that your baby will have the disorder you both carry. You can have a test during the pregnancy (amniocentesis or chorionic villus sampling ) to see if your baby has the disease. If your baby is affected, you can choose to terminate or continue the pregnancy.

If you are French Canadian or Cajun, your care provider may offer you Tay-Sachs testing.

 

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