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If you’re of Ashkenazi Jewish descent, you may be more likely to be a genetic carrier of certain genetically inherited diseases. In fact, research shows that about 1 in 4 Ashkenazi Jews carry a mutation for Gaucher disease, cystic fibrosis, Bloom syndrome, Canavan disease, or Tay-Sachs disease.
There’s no way to change your carrier status, but preventive screening makes it possible to determine your child’s risk of these or other conditions so that you can plan for the future.
How are Ashkenazi Jewish genetic diseases diagnosed?
Carrier screening is a genetic test used to determine if you are a genetic carrier of Ashkenazi Jewish genetic diseases. If you are a carrier, it means that you have inherited a normal gene from one of your parents and an abnormal gene from the other. As a carrier, you won’t necessarily have symptoms of a specific disease, but you can pass it on to your offspring.
During carrier screening, your general practitioner or OB/GYN takes a sample of blood, saliva, or tissue from inside your cheek. They send your sample to a laboratory for analysis.
What are Ashkenazi Jewish genetic diseases?
Ashkenazi Jewish genetic diseases affect people of Eastern European Jewish heritage. Many of these diseases are chronic and lead to serious health problems. However, with early detection and treatment, it’s possible to reduce symptoms and improve an individual’s quality of life.
What are some common genetic diseases that affect Ashkenazi Jews?
There are several genetic diseases that affect people of Ashkenazi Jewish descent, including:
Bloom syndrome. Bloom syndrome is a rare genetic disorder that causes abnormal growth. Babies with Bloom syndrome are typically short in stature and have sun-sensitive skin. Additionally, children with Bloom syndrome are susceptible to ear and respiratory infections.
Gaucher disease. Gaucher disease is a genetic disorder that occurs in about 1 of every 40,000 births. It causes fat heavy Gaucher cells to build-up in the bone marrow, liver, or spleen, resulting in anemia, fractures, bleeding, and bruising problems.
Cystic fibrosis. Cystic fibrosis is a genetic disorder that negatively affects the lungs, pancreas, and other organs. It causes frequent respiratory infections and negatively affects a child’s ability to breathe. Oftentimes, cystic fibrosis results in coughing, wheezing, and difficulty exercising.
Canavan disease. Canavan disease is a genetic disorder that negatively affects the nerve cells in the brain. It damages the neurons, preventing them from sending or receiving messages. Common symptoms of Canavan disease include sleep disturbances, irritability, weak muscle tone, and large head size.
Tay-Sachs disease. Tay-Sachs is similar to Canavan disease in that it destroys nerve cells in the brain and spinal cord. Symptoms associated with Tay-Sachs disease include vision and hearing loss, seizures, and muscle weakness.
What if I’m a carrier for Ashkenazi Jewish genetic diseases?
If you find out that you’re a carrier for Ashkenazi Jewish genetic diseases, it is important for your partner to get tested as well. To pass a genetic disease onto your offspring, both you and your partner must be carriers.
Once you receive your test results, your OB/GYN or general practitioner can refer you to a genetic counselor who can explain the results of your test in-depth.
