Hemophilia

Hemophilia is a disorder of the blood that makes it hard for the body to stop bleeding because a good blood clot can’t be made.  When bleeding occurs, the body has many proteins and cells that come to fix the problem by making a blood clot where the bleeding.  The proteins that help stop bleeding are called clotting proteins.  If the body does not have enough of one of the clotting proteins (also called factor proteins), it is hard for the body to stop bleeding.   When someone has Hemophilia A,  do not have enough, of the clotting protein called Factor VIII (8).  When someone has Hemophilia B, they do not have enough, of the clotting protein called Factor IX (9). Hemophilia only affects the making of a clot, not how fast the body bleeds. Bleeding may last longer or may restart minutes, hours or days after stopping.

Hemophilia occurs mostly in someone born male.  One of every 5,000 males born in the United States has hemophilia.  Someone that is born female are carriers of the hemophilia gene and usually do not get hemophilia because usually only one of their chromosomes has the hemophilia gene.  The chromosome that does not have the hemophilia gene will instruct the body to make clotting factors.  It used to be thought that carriers of hemophilia do not have bleeding problems.  That is not true!   Carriers can have bleeding problems depending on their clotting factor levels.  Sometimes the amount of clotting factor that is made by the one normal chromosome is not enough, and bleeding problems occur in carriers.

Hemophilia is mostly an inherited bleeding disorder; however, there is always one person in the family that is the first to have the disorder. Diagnosis often occurs in early infancy because of bruising and/or bleeding from birth, circumcision, trauma, or immunization administration.

Hemophilia A is when there is low or missing factor VIII (8) clotting factor protein in the blood.  Hemophilia B is the when there is low or missing factor IX (9) clotting factor protein in the blood.  There are several clotting factor proteins that help the body to stop bleeding after, an injury occurs, by gathering at the site of the injury and making a blood clot.  Not having enough of any of these clotting proteins can delay the time it takes to make a blood clot and for this blood clot to be weak, causing bleeding to last longer or to stop and then start back up again.

Diagnosis is made when blood testing shows levels below 50% for either A or B.  Normal levels are between 50% and 150%.

 

Levels of Severity
There are three levels of severity for Hemophilia A and B.  Severity is based upon how much blood clotting factor protein is in the blood.

• Severe hemophilia: Factor levels less than 1%. Bleeding occurs more often and can occur without a known injury (also called spontaneous bleeding).  Bruising (bleeding under the skin) occurs with minor injuries.
• Moderate hemophilia: Factor levels from 1%-5%. Bleeding usually happens after injury or surgery.  Bleeding that happens in a joint, can occur over and over.
• Mild hemophilia: Factor levels from 5%-40%.  Bleeding occurs usually only after major injury or surgery.

Clotting Factor Replacement
The treatment for hemophilia is to replace the clotting factor that the body is deficient in.  In Hemophilia A, the treatment replaces Factor VIII (8).  In Hemophilia B, the treatment replaces Factor IX (9).  Factor replacement is given through an intravenous (in the vein) infusion.  Frequency of treatment for hemophilia A and B is dependent on severity and bleeding history.  Treatments are either provided when a bleeding episode occurs (episodic) or to prevent a bleeding episode from occurring (prophylaxis).  People diagnosed with moderate and severe hemophilia often need to have prophylaxis treatments because very low clotting factor levels increases the risk for spontaneous bleeding.  If prophylaxis treatments are needed, patients and caregivers will be taught how to give the factor replacement through the vein so treatments can be given at home.

 

Fresh Frozen Plasma
Not all hospitals have clotting factor replacement products available.  If severe bleeding or injury occurs, fresh frozen plasma will need to be given.  Fresh frozen plasma is a transfusion of plasma, donated from another person, that is given in a vein.  It contains all clotting factors and will help the body to stop bleeding.

 

DDAVP (Stimate)
This medication can be used to treat mild Hemophilia A, but not for hemophilia B.  Testing will need to be done to make sure that the medication works to raise the factor VIII (8) level. It is important to control drinking after getting DDAVP/Stimate because it can cause fluid retention.

 

Amicar and Lysteda (Aminocaproic Acid/Tranexamic Acid)
Aimcar and Lysteda are oral medications that work very well for bleeding of mucous membranes such as nose and mouth bleeding.  Lysteda is also used for heavy menstrual bleeding.  When bleeding occurs, the body tries to heal the area by making a clot that will plug the hole to stop bleeding. This clot will stay there for about four days.  After these four days, chemicals in the body are triggered to breakdown the clot. This is called fibrinolysis. Amicar and stimate are called anti-fibrinolytic medications because it stops fibrinolysis. A person with a bleeding disorder needs more time for healing because they cannot make a strong clot to heal the area of bleeding.  Amicar and Lysteda stops the body from breaking the clot down.  This gives the blood vessels more time to completely heal and prevents prolonged bleeding and rebleeding.