Hemophilia Disorder

by Derek Rehberger

Hemophilia is a sex-linked disorder in which the blood doesn't clot sufficiently. It is incurable, but can be treated, and occurs in all races and populations. It is found that it originated from Queen Victoria, and has descended from there. It is more common in males than females.


  • many large or deep bruises
  • unexplained bleeding
  • joint pain and swelling
  • bleeding
  • blood in urine and stool
  • bruising
  • heavy or prolonged menstrual cycles
  • internal bleeding
  • nosebleeds
  • swollen joints

Biology of Hemophilia

There are 13 proteins that are needed to clot your blood properly. Hemophilia occurs when one of these proteins is missing or has very low levels. Hemophilia A is when the person doesn't have enough or any of Factor 8, or Factor VIII. Hemophilia B is when they don't have enough of Factor 9 or IX. Hemophilia A occurs in 80% of hemophiliacs, and Hemophilia B occurs in 20%.

Type of Inheritance

Hemophilia is a sex-linked disorder, and is a recessive X trait. This is why it is more common in males than females. The female typically has a backup x-chromosome, so they are only carriers of the trait. For males, there is only one X chromosome, so if they inherit it, they will get hemophilia.

Type of Mutation

"Mutations in the F8 gene cause hemophilia A, the most common form of this bleeding disorder. More than 1,300 alterations in this gene have been identified. Some of these mutations change single DNA building blocks (base pairs) in the gene, while others delete or insert multiple base pairs. The most common mutation in people with severe hemophilia A is a rearrangement of genetic material called an inversion. This inversion involves a large segment of the F8 gene.


"Mutations in the F9 gene cause a type of hemophilia called hemophilia B. More than 900 alterations in this gene have been identified. The most common mutations change single DNA building blocks (base pairs) in the gene. A small percentage of mutations delete or insert multiple base pairs or rearrange segments of DNA within the gene. (https://ghr.nlm.nih.gov/gene/F9)"

The F8 Gene is located on the x-chromosome, which is one of the sex-chromosomes in a karyotype.
The F9 gene is located on the same chromosome as the F8, just a bit higher up.
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Famous People With Hemophilia

Diagnosing Hemophilia

Families with a history of hemophilia can determine if a fetus is affected by it during pregnancy, but this can be dangerous to the fetus. A blood test can show a clotting-factor deficiency. It is usually diagnosed at an average age of 9 months and almost always by 2. For milder cases, it won't be diagnosed until a person goes through surgery and bleeds excessively.

Treating Hemophilia

There is no known cure for hemophilia, but there are treatments. Treatments include injections of a clotting factor or plasma. People can take:

  • aminocaproic acid (injection or orally)
  • desmopressin (injection, orally, or nasally)
  • tranexamic acid (injection or orally)
  • IV Fluids are also common

Ethical Implications

There is question on whether changing someone's genes to cure hemophilia (which will be the most likely cure) is ethical.


"Hemophilia." Mayo Clinic. N.p., 26 Sept. 2014. Web. 20 Mar. 2016. <http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/definition/con-20029824>.

"Hemophilia." Genetics Home Reference. N.p., 14 Mar. 2016. Web. 20 Mar. 2016. <https://ghr.nlm.nih.gov/condition/hemophilia>.

"What Is Hemophilia?" Homecare for the Cure. N.p., n.d. Web. 20 Mar. 2016. <http://www.hemophilia-information.com/what-is-hemophilia.html>.