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Most Common Jewish Genetic Disease: Gaucher Disease

Posted Nov 19 2009 10:02pm

Here are fast facts about Gaucher Disease, the most common genetic condition in Ashkenazi Jewish people.

  • 1 in every 18 Ashkenazi Jews is a carrier for Gaucher disease.
  • Carriers are unaffected, but when two carrier have a child, they have a 1 in 4 (25%) chance of having a child with Gaucher disease.
  • Gaucher disease mainly affects the spleen, liver, and bones, and occasionally the lungs, kidneys, and brain. This disease can range in severity from mild to chronic.
  • Symptoms of Gaucher disease can develop at any age, but they frequently begin during adolescence and early adulthood.
  • The most common symptom is chronic fatigue caused by anemia. People may experience easy bruising, nosebleeds, bleeding gums, and prolonged and heavy bleeding with menstruation and after childbirth.
  • Gaucher disease is caused by the deficiency of the beta-glucocerebrosidase enzyme, which is encoded by a gene on chromosome 1.
  • Treatment is available through enzyme therapy, which results in a vastly improved quality of life.
  • Gaucher Disease is inherited in an autosomal recessive manner. (My previous post explains how this works )
  • Carrier screening is available for couples who are planning a pregnancy.
  • If it is known that both parents are carriers, prenatal diagnosis is available to detect Gaucher disease in a pregnancy through gene mutation analysis.

Technorati Tags: gaucher disease, ashkenazi jewish diseases, genetic conditions, carrier testing, genetic testing, pgd, symptoms

This entry was posted on Tuesday, February 6th, 2007 at 12:37 pm and is filed under Ashkenazi Jewish Diseases, Genetic Testing, Pregnancy & Infertility. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.

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