Hemophilia- M6L2A1

Learn more about this disorder and how it effects one's life

Basic Definition

Your blood doesn't clot normally because it's lacking blood clotting proteins.

Symptoms

  • Nose bleeds
  • contusions (bruise easily)
  • blood in urine
  • bleeding for no reason
  • bleeding that won't stop after an injury, etc.

There are two types: Hemophilia A and Hemophilia B

Variably Expressed?

Hemophilia is variably expressed. The environment takes on a huge role when it comes to how Hemophilia plays out for a person (like falling, surgery, etc.)

Hemophilia A and B

Hemophilia A: Lacks factor VIII (which is an essential blood-clotting protein to the body)

Hemophilia B: Lacks factor IX (One of the serine proteases of the coagulation system)


Reference: http://en.wikipedia.org/wiki/Haemophilia

Test it before Birth?

Families can test for Hemophilia before birth occurs. There are genetic counselors that can assist you with this. (it's called prenatal testing) people do this because they are aware of their family history or the mother is a carrier, and they want to take necessary actions to maintain/improve the babies health.

The way it works: The woman will have her fetus tested during pregnancy. Then during the 10th or 11th week of pregnancy chronic villus sampling is performed.

Details are here: http://www.cincinnatichildrens.org/health/h/hemophilia-test/

Are you a carrier?

A woman can be tested to see if she's a carrier for Hemophilia. It's very simple. They do this by a simple factor level test. If a woman's factor levels are low, then she carries the certain gene for Hemophilia.

Altering the Environment...

Altering the Environment to avoid effects from Hemophilia is quite hard. A person would have to be extremely careful based on every step he/she took (falling is one thing that effects it). A person could warn their dentist/doctor/etc. on their disorder and see what actions they need to take in order to avoid the effects. Basically nothing in the environment can be changed permanently to avoid the effects of Hemophilia, but one can take extra precautions.
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Treatment

Replacement Therapy can replace the missing or low clotting factor in the body. (VIII or IX) This will help the symptoms go away.