Wednesday, April 22, 2009

Gaucher's Disease

Gaucher’s disease is a common Jewish genetically inherited disease. It is an enzyme deficiency disorder and it can occur at any age. “Gaucher’s disease results from the deposition of glucocerebroside in the liver, bone marrow, and spleen. The enzyme glucocerebrosidase normally breaks down glucocerebroside, but patients with Gaucher’s Disease do not manufacture enough of the enzyme, and deposition of glucocerebroside results. Type I Gaucher’s Disease is the most common genetic disease among Jews. An estimated one in 450 to one 1500 in people of Ashkenazi descent are carriers. (Estimated: One in Ten Ashkenazi Jew is a carrier of Gaucher’s.)” (mazernot.com). Gaucher’s disease is just one of the common genetic diseases amongst Jews. I am choosing to blog on Gaucher’s disease because it is a disease that runs specifically on my mother’s side of the family. Her mother/my grandmother passed away from the disease when I was about two years old. My mother is a carrier and because she is a carrier, her children have the risk of being carriers as well. Therefore, myself and my three older siblings were also tested to see if we were carriers of the disease. Luckily, my four siblings and I are not carriers and thus, there is no chance that our children could inherit the disease. One can inherit the disease only if both parents are carriers. For example, if my father was also a carrier of the disease, there would be a great chance that me or one of my siblings would get the disease.

No comments:

Post a Comment