Sunday, March 14, 2010

Factor XI deficiency

1. Factor XI deficiency is a type of hemophilia caused by mutations that cause a deficiency of clotting factor XI. Clotting factor XI is a protein that helpt body seal up breaches in blood vessels that are caused by injury such as a tumble off of your first bike or a shaving nick caused by a dull blade. Both males and females have equal chance of having factor XI deficiency. There is a great deal of variation in how factor XI deficiecy affects people. Some people will never experience abnormal bleeding, while others will bleed profusely after minor injuries. This disease is particularly common in people with Ashkenazi Jewish ancestry. Approximately one out of every 23 Ashkenazi Jews carries a mutation that can cause factor XI deficiency. 23andMe reports data for the three most common factor XI deficiency-causing mutations-F282L, E117X and IVS14-G>A. The F283L mutation is unique to Ashkenazi Jews population. The E117X mutation is found in low frequencies in other populations. Factor XI deficiency caused by these mutations is inherited in a recessive manner, meaning that only a child who receives two copies of a mutation (one from each parent) will get the disease.


2. Genetic testing can provide a sense of relief from uncertainty and help people make informed decisions about managing their healthcare. In addition, it can provide important information for diagnosing, treating, and preventing illnesses. On contrary, genetic testing results can reveal deadly disease that can cause people become depressed and can lead to suicidal attempts.

3. Even if I could undergo personal genetic testing from 23andMe for free I would still not bother to waste my time on getting it. I do not see any benefit in getting to know about my future diseases because if I do, it would interfier with my daily life in case I am carrier of some scary diseases. One of colonical expressions in my language says: "If your eyes don't see it, you heart would not hurt."


1 comment:

  1. Interesting topic, my topic on Familia Dysautonomia also relates with Ashkenazi Jewish ancestry. I understand that you wouldn't want to be genetically tested even though its free and also that you wouldn't want to know what types of diseases you might inherit, but what about those diseases that could be preventable?

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