Hemophilia A

By: Ashlyn Brenham

The Disease

This genetic disorder is a recessive X-linked mutation also known as Classic Hemophilia. Being X-linked and recessive makes Hemophilia show predominantly in males of all racial and ethnic groups because they only need to inherit it from one X gene. The mutation causes a deficiency of Factor VIII. Factor VIII is a clotting factor. The lack of this causes an affected person to bleed easily and not stop bleeding for long periods of time. Hemophilia also causes joint pain and arthritis.

Short Term Consequences

Hemophilia can be tested for in prenatal care, however it is not routine. The test is mostly done when there is a real chance of the child inheriting Hemophilia. However, the disease cannot be prevented.

Long Term Consequences

An individual affected by Hemophilia can have children in the future. That child could be affected as well depending on the sex of the child and the parent. If an affected male has a boy, the boy will not have the gene. If a male has a girl the girl could be affected depending on the mother. If the mother was not a carrier then the girl would be a carrier, but if the mother was a carrier then the girl would be affected. Girls will only be affected if they receive the gene from both parents. However, if an affected female has a boy, he will be effected.

Treatments and Clinical Help

Affected people will need to be careful about bleeds. These people will also need blood transfusions if they loose to much blood before they can heal. There is a treatment, however it is very expensive. This treatment is a Factor VIII transfusion injected into the veins called replacement therapy. Gene Therapy is another treatment that is just coming out. This option gives the body the correct base pairs needed to correct the mutation that causes the deficiency in Factor VIII.

Research

Right now, scientists are studying inhibitors. Inhibitors are antibodies that attack Factor VII. This prevents affected people from getting replacement therapy. Scientists are also looking into ways create preventative programs. The programs would help reduce complications that Hemophilia causes.

Citations


"Facts." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 26 Aug. 2014. Web. 30 Apr. 2015.

"How Is Hemophilia Treated?" - NHLBI, NIH. N.p., n.d. Web. 30 Apr. 2015.

Kniffin, Cassandra L. "Hemophilia A." OMIM. N.p., n.d. Web. 30 Apr. 2015

"Treatment of Hemophilia - Hemophilia Federation of America."Hemophilia Federation of America Treatment of Hemophilia Comments. N.p., n.d. Web. 30 Apr. 2015.

"Why We Do Research on Hemophilia." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 17 Mar. 2015. Web. 30 Apr. 2015.