Hemophilia

=**[** Hemophilia **] Genetic Diseases**=


 * · Occurs when blood-clotting gene are absent; uncontrolled bleeding
 * · It takes a long time for the blood to clot

**[** What Causes It? **]**

 * · Caused by altered structural proteins[[image:clot-pathway.gif width="339" height="355" align="right" caption="Figure 1"]]
 * The F8 and F9 genes are responsible for making blood clotting factors VIII and IX which play a role in the cascade of events that lead to a blood clot (figure 1) Hemophilia A is caused by an inversion in the F8 Gene. An inversion mutation is where a sequence of DNA is reversed. Hemophilia B is caused by a deletion in the F9 Gene. A deletion is the loss of entire piece of chromosome or a smaller DNA segment. Both inversion and deletion have the potential to be very serious and in this case are evident by the fact that they cause Hemophilia.

**[** Symptoms **]**

 * · Abnormal Bleeding (internal and into joints or after surgery)
 * · In severe cases bleeding may occur without cause
 * · Most often affects males

**[** Treatment **]**

 * · Supply the missing protein-> missing blood clotting protein is supplied in pure form from recombinant DNA technology

**[** Results **]**
> chronic bleeding or significant bleeding events
 * · Most people are able to lead relatively normal lives. Some people however, may experience[[image:Hemophilia.gif width="243" height="336" align="right"]]
 * · A small percentage of people may die from severe bleeding
 * These genes, F8 and F9, are located on the X chromosome making hemophilia a recessive, sex linked disorder (Figure 2)

References: http://ghr.nlm.nih.gov/condition/hemophilia http://www.hemophilia-information.com/hemophilia-genetics.html http://www.google.com/imgres?imgurl=http://www.walgreens.com/library/graphics