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The Science of Hemophilia

Hemophilia A (classic hemophilia​)
 

  • A person with hemophilia A has low levels of or is completely missing the Factor VIII protein.
  • Over 70% of hemophiliacs have type A hemophilia, which is also the most serious form of the disease
  • It is estimated that 1 in 5000 live male births among all ethnic populations are affected with hemophilia A.
  • The gene for hemophilia A is located on the long arm of the X chromosome at Xq28. Intron 22 (a segment of a DNA or RNA molecule that does not code for proteins and interrupts the sequence of genes) is the largest (32 kb) and is the location of the most common mutation in hemophilia A, which occurs because of an inversion involving intron 22.

Hemophilia B (Christmas disease)

  • Named after Steven Christmas (a canadian who contracted this distinct form of hemophilia in 1952).
  • Hemophilia B only affects 1 in 30,000 live male births.
  • Hemophilia B is a result of a deficient or absent factor IX which is located on the long arm of the X chromosome as well (Xq27.1)10 times rarer than type A, and is often not brought up by other sources. It is unique in that it shows up in both males and females  equally and is characterized by low levels of or a lack of factor IX.


 

Hemophilia C (Super rare)

  • ​10 times rarer than type A, and is often not brought up by other sources. It is unique in that it shows up in both males and females  equally and is characterized by low levels of or a lack of factor XI.

Levels of Severity

Hemophilia comes in three basic levels of severity that depends upon the level of factor in a person's blood: mild, moderate, severe. The more sever the less able you are to create clots. The level of clotting factor in your blood is dictated by your DNA, keeping it relatively steady throughout your life.

 

severity levels:

  • Severe:  A person with hemophilia is classified as severe if their levels of Factor VIII or IX in the blood are less than 1% of normal. 
  • Moderate: A person with hemophilia is classified as moderate if their levels of Factor VIII or IX in the blood are between 1-5% of normal.
  • Mild: A person with hemophilia is classified as mild if their levels of Factor VIII or IX in the blood are between 5-40% of normal.
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