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 CARRIERS

Females carry the hemophilia gene and have a 50% chance of passing the gene to their children, both male and female.  This is why they are called hemophilia carriers.  Males that have hemophilia have a 100% chance of passing the hemophilia gene to their daughters, but cannot pass the gene to their sons.  See the picture below.

As you can see in the picture, the carrier daughters have two X genes: one that is affected with the hemophilia gene and one that is not.  Usually, the gene that is not affected will work to make enough clotting factor protein.  However, sometimes this gene does not step up and causes the hemophilia carrier to not be able to make enough clotting factor protein.  This means that hemophilia carriers are also at risk for having low clotting factor protein levels and could be diagnosed with hemophilia.

You can also see in this picture, when a father has hemophilia, his son’s will not have hemophilia.  That is because the gene that a father gives to a son is a Y gene and the hemophilia gene is on the X gene. Therefore, a male that has hemophilia will never give his son hemophilia.

WHO IN THE FAMILY IS AT RISK FOR HEMOPHILIA

  • Someone born female, whose father is diagnosed with hemophilia, will 100% get the hemophilia gene. The chance of also having low clotting factor protein levels is unknown.
  • Male children born to a hemophilia carrier mother has a 50% chance of having hemophilia
  • Female children born to a hemophilia carrier mother has a 50% chance of having the hemophilia gene. The chance of also having low clotting factor protein levels is unknown.
  • Mothers and siblings of the first person in the family to have hemophilia

Signs And Symptoms

  • Increased bruising and/or bruises that take a long time to heal

  • Prolonged bleeding

  • Excessive bleeding from a circumcision

  • Excessive bleeding from surgeries

  • Bleeding into the joints

  • Heavy Menstrual Bleeding

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.

A person born male that has hemophilia:

  • Their baby that is born female WILL BE a carrier of hemophilia (obligate carriers)
  • Their baby that is born male WILL NOT have hemophilia
  • Their sibling, born male, should be tested to see if they have hemophilia
  • Their sibling, born female, should be tested to see if they are a carrier of hemophilia

o   They should be tested because they need to know if they are going to be at risk for passing the hemophilia gene to their children

Treatment

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)
Amicar and Lysteda are oral medications that work very well for bleeding of mucous membranes such as nose, mouth and 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. Amicar and Lysteda stops the body from breaking down the clot. This gives the blood vessels more time to completely heal and prevents prolonged bleeding and re-bleeding.

Complications

Bleeding can occur anywhere in the body.  Usually bleeding is caused by injury, surgery or dental procedures, but people diagnosed with moderate and severe hemophilia can have spontaneous bleeding.

Complications from hemophilia can include:

  • Prolonged bleeding leading to anemia
  • Bleeding in joints leading to arthritis or damage to joints
  • Damage to the brain (Head injury resulting to bleeding inside the skull)
  • Difficulty breathing (Due to bleeding in the neck or lungs after injury)
  • Paralysis (Due to bleeding in the spinal column after injury)
  • Development of an inhibitor. To read more about inhibitors, please click here.