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Hemophilia ~ Colleen

Page history last edited by Colleen D 7 years, 5 months ago


HEMOPHILIA  (Once known as the "Disease of Kings" or "Royal Disease")



What is Hemophilia?

Hemophilia is a rare bleeding disorder. It is caused from blood not being able to clot properly in someones body.

It is a genetic disorder that is Inherited.

The females are the carriers of Hemophilia.

Only about 1 in every 5,000-10,000 boys are born with it. (In a very rare case a female could get it but the case would not be as severe as it would be if a male had it)



Symptoms and Signs of Hemophilia.


Signs of External Bleeding

-Bleeding in mouth from a cut or lost tooth.

-Constant nosebleeds for no identifiable reason.

-Heavy bleeding from a minor or very tiny cut.

-Bleeding from a cut that starts after a few seconds when you think the bleeding was over.


Signs of Internal Bleeding

-Blood in the urine. (Coming from bleeding in the kidneys of bladder area)

-Large bruises that are from bleeding joints or large muscle areas. (In unusual areas and odd formations)

-Bleeding in the Intestines or stomach.

-Excessive amount of painful or swollen joints 



How is Hemophilia Caused?

Females and males each have 23 pairs of Chromosomes.

Females have two X chromosomes and males have one Y and one X chromosome.

Hemophilia is an X linked genetic disorder.

If the mother has a children and some are males than each male has a 50% chance of getting Hemophilia.

This is because the X chromosome is passed from the mother to the son. So if the mother has one X chromosome that is carrying Hemophilia her son will have 50% chance  of getting it. 

It is rare for the females to get it because they have two X chromosomes which lowers the risk.




The image above shows The father who has an X and a Y chromosome and he does not have hemophilia. The mother

Has two X chromosomes but one of them is the carrier of the disease. She has two sons and the first one is normal whereas the second one got the X chromosome that had the Hemophilia carried in it causing him to have hemophilia. The two daughters have a chance of both being carriers but only the one daughter is a carrier.



What can we do to help with the cause of Hemophilia?

Doctors can identify Hemophilia after taking several blood tests. For instance some people don't even know they have it until they go in for surgery and the doctor has to take a blood test which in the end tells us that that person has hemophilia. It is not a curable disease. There are things you can do to reduce it. For instance some people could get blood transfusions. This would give them more healthy white blood cells which help with the clotting of blood. A cut or wound can be easy to fix for someone with hemophilia. Its the internal bleeding that causes the most difficulties for a person and is the hardest to deal with. The patients who have more severe hemophilia can get regular shots to help with the factor that they're missing. This treatment is known as the Clotting Factor Replacement Therapy. This can help prevent very severe bleeding episodes. The clotting factors are given through an IV into a vein. Some people get this done at the hospital or doctors office. Some even prefer to stay at home and do it. When the people with hemophilia get diagnosed they normally see a doctor who specializes in blood. They can help the patient tell if they are internally bleeding. This will help them so they know exactly when to go to the hospital where they will help them by giving them surgery or they will infuse the missing blood clotting factor. 



Gene Therapy.

Gene Therapy is an experimental technique that tries to provide the body with the genetic information it does not have.

Scientists are working on Gene Therapy for people with Hemophilia.

Hemophilia is apparently a good test for gene therapy because it is caused by only one defective gene.

The scientists are hoping that they will be able to give people with hemophilia the genetic information they need to help with producing their own blood clotting factors in their body.




People with Hemophilia can do the exact same things that we can do everyday. They might need to be more careful but they all still play sports and participate in the same activities that we do ourselves. It is important for them to maintain a healthy body weight so they stay fit and healthy. 



Interesting Facts!  


This is a pedigree of the Royal Families. There was a long chain of hemophilia in the Royal Families. (Hence the once known as ``The Royal Disease``). Queen Victoria was a carrier and then it got passed on to the whole Royal Family. It even affected the Russian Royal Family as well because one of the princes fell in love with someone from the British Royal Family. They ended up having children and one of their sons had a very severe case of Hemophilia. He however did not die at an early age because it was told that Rasputin was a healer and could heal their son by praying over his body. Most thought of Rasputin as magical back then because there was no cure for it and the technology was defiantly not like it is today. 











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