Genetic Disorder


Hemophilia is when the ability for the blood to clot is severely reduced, causing the sufferer to bleed severely even from a small cut. It is caused by missing or defective factor VII, a clotting protein.

When and who discovered Hemophilia

Dr. John Conrad Otto discovered hemophilia in the early 1800's

Backround on Hemophilia

Hemophilia is often noticed when an infant is born, so treatment can begin right away. If not noticed right away hemophilia is often noticed after an operation or serious injury.
This genetic disorder is a chromosomal abnormalities-x-linked recessive trait. Women have two X chromosomes, but men only have one, so mostly men get Hemophilia. If a women has it on one X chromosome they are called a "carrier"

What causes Hemophilia

Hemophilia A is caused by an inherited x-linked recessive trait, with the defective gene located on the X chromosome. If a women has a defective factor VII gene, she is a carrier and can pass it onto her kids.
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Symptoms of Hemophilia can be bleeding into joints with associated pain and swelling, blood in the vain or stool, bruising, nosebleeds, prolonged bleeding from cuts, tooth extraction, and surgery.

How do you know if you have Hemophilia

People who have family members with Hemophilia ask that there children get tested soon after birth. 1/3 of babies who are diagnosed with it have a new mutation not present members of the family. Also, Doctors will preform certain blood tests to show if the blood is clotting properly. If not then they would do clotting factor tests to diagnose the cause of the bleeding disorder. This test will show the type of hemophilia and the severity.

Prevent Hemophilia

To prevent bleeding, people and their families can be taught to give factor IX concentrates at home at the first sign of bleeding.You may also need to take factor XI before surgeries if you have more than one Hemophilia. There are also vaccines that you can take called Hepatitis to help prevent the bleeding.
There are several ways that you can treat Hemophilia. For one, you can replace the missing blood clotting factor so that blood can clot properly. Done by infusing (administering through a vein) People should learn to do this at home so they can have easier access to it.
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Support Groups

There are many support groups around that deal with Hemophilia. CDC Community counts program collects data to monitor the well-being of those diagnosed with Hemophilia. There are also several websites that you can go to to help you with what you need.