Hemophilia

By: Emma Kitzmiller

What is it?

In a human, the blood clots to stop the bleeding when you get a cut or anything happens to you. Hemophilia says that the blood doesn't clot normally. People with hemophilia have internal and external excessive bleeding after any injury. There are two types of Hemophilia (Hemophilia A and Hemophilia B) and both are genetic. Out of male births, every one in 5,000 males have hemophilia. Anyone could get hemophilia including famous people such as Richard Burton, Alexandrea Borstein,and Ryan Wayne White.

Symptoms and Effects on Proteins

  • Sudden pain, swelling and warmth in large joints, such as knees, elbows, hips and shoulders, and in your arm and leg muscles
  • Bleeding from an injury, especially if you have a severe form of hemophilia
  • Painful, prolonged headache
  • Repeated vomiting
  • Extreme fatigue
  • Neck pain
  • Double vision

" Mutations in the F8 or F9 gene lead to the production of an abnormal version of coagulation factor VIII or coagulation factor IX, or reduce the amount of one of these proteins. The altered or missing protein cannot participate effectively in the blood clotting process. As a result, blood clots cannot form properly in response to injury. These problems with blood clotting lead to continuous bleeding that can be difficult to control. The mutations that cause severe hemophilia almost completely eliminate the activity of coagulation factor VIII or coagulation factor IX. The mutations responsible for mild and moderate hemophilia reduce but do not eliminate the activity of one of these proteins."

Type of Mutation and Type of Inheritance

Hemophilia is a genetic mutation in which the X chromosome is defective. Hemophilia is inherited through the X-linked chromosomes in the human genes. It is more common in males because males only have X chromosome and it is rare in women because they have 2 X chromosomes.

Diagnosis/ Treatment/ Ethical Implications

Hemophilia can be tested by using screening tests and clotting factor tests. Hemophilia cannot be cured but it can be treated. People with Hemophilia can get a doctor's prescription, self-injections, transfusion medicine and IV fluids. The doctors that may help treat Hemophilia are: hematologists, orthopedic surgeons, physical therapists, pediatricians, and medical geneticists.