Hemophilia A

By Leah Keogh

What is Hemophilia A?

Hemophilia A is a type of blood disorder that is inherited genetically. This is a sex-linked trait, which means that it is carried on Chromosome pair 23. Hemophilia is on the X chromosome and is recessive. This means that it is more common in males because they would only need to inherit the gene for Hemophilia from their mother, while a female would need to inherit the gene from both her parents to have the disorder.

Inheritance & Carriers

Hemophilia A is inherited through Chromosome pair 23, or a sex-linked trait. This means that a child will inherit Hemophilia from their parents and it is more likely to be given to males. Hemophilia is inherited on the X chromosome and is a recessive trait. This causes males to more often have the condition, but females to more often be a carrier for this genetic disorder.

A woman would be a carrier if she were:

  • The biological daughter of a man with hemophilia
  • The biological mother of more than one son with hemophilia
  • The biological mother of one son with hemophilia and has at least one other blood relative with hemophilia

A carrier test is a blood test that evaluate the X chromosome in the 23rd pair to find the mutation that causes hemophilia in that DNA, that could possibly run in the family. Carrier tests are not always 100% accurate, and sometimes won't give you the results you are looking for.

How Hemophilia affects your health

Symptoms

  • Excessive bleeding from cuts or injuries

  • Many large or deep bruises

  • Unusual bleeding after vaccinations

  • Pain, swelling or tightness in joints

  • Nosebleeds without a known cause

  • Painful, excessive headache

  • Repeated vomiting

  • Extreme fatigue

  • Neck pain

  • Double vision

Complications


  • Joint Damage and deformation

  • Inhibitors-Antibodies against blood transfusion

  • Viral infection-from different blood

  • Excessive bleeding/blood loss

  • Excessive Bruising

Treatment

Current Treament

Hemophilia is treated by replacing the protein that is missing in the blood, this id called Factor replacement therapy. By Injecting the missing factor protein into the affected person’s vein the factor becomes immediately available in the bloodstream. The body is able to activate it to continue the clotting of blood and stop the bleeding.

Research Outlook

  • Researchers are looking for the possibility of treating the disorder with gene therapy.

  • Testing on a type of adult stem cell, so that they produce high levels of clotting factor VIII.

  • Researchers want to begin to engineer these mesenchymal stem cells.

Other facts about Hemophiliacs and their disorder

  • Around 75% of Hemophiliacs globally do not receive treatment due to lack of resources
  • Hemophilia occurs in about 2.2% of males
  • Over time bleeds in joints can cause arthritis
  • 1/3 of cases of Inherited Hemophilia A it appears with no previous history in the family of actually having the disorder.
  • Around 17,000 people have Hemophilia in the U.S.

Works Cited

"Hemophilia." Symptoms. N.p., n.d. Web. 02 Dec. 2015.


"Complications of Having a Bleeding Disorder - Hemophilia Federation of America." Hemophilia Federation of America Complications of Having a Bleeding Disorder Comments. N.p., n.d. Web. 02 Dec. 2015.


"The Complications of Hemophilia." - Canadian Hemophilia Society. N.p., n.d. Web. 02 Dec. 2015.


"Result Filters." National Center for Biotechnology Information. U.S. National Library of Medicine, n.d. Web. 04 Dec. 2015.


"Hemophilia Symptoms, Causes, Treatment - What Are Treatments for Hemophilia? - MedicineNet." MedicineNet. N.p., n.d. Web. 04 Dec. 2015.


"Researching a Treatment for Hemophilia." - Wake Forest School of Medicine. N.p., n.d. Web. 07 Dec. 2015.