Talk

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.