Hemophilia Awareness
  Contributed by: Matt Millard, Pharm.D.  Candidate
                        KU School of Pharmacy

What is Hemophilia?
Hemophilia is a rare blood disorder that is characterized by an individuals' inability to clot.  It is a disorder that is genetic and can be passed from either parent to their child.  Most often, males are affected, but females can also be affected.  The reason for this is that hemophilia is on the X chromosome.  Since females have two X chromosomes the healthy chromosome can make up for the abnormal one.

How would I know if I have hemophilia?
Most often, hemophilia will be diagnosed at a very young age.  It will be characterized by an excessive amount of bleeding or bruising.  Children with mild hemophilia may not know they have the disease until they are older and have undergone a dental procedure, surgery or had an accident.  A physician will need to complete a blood test in order to diagnose an individual with hemophilia. 

Are there different types of hemophilia?
Yes.  Hemophilia can be classified in to two types: hemophilia A and hemophilia B.  About 9 out of 10 people diagnosed with hemophilia have type A.  The difference between the two types is that the individual affected by the disease is deficient in or missing a different type of clotting factor.  Type A individuals are deficient in clotting factor VIII and type B individuals are deficient in clotting factor IX.  The different clotting factors are just things your body needs to help you stop bleeding. 
Hemophilia can also be mild, moderate and severe.  The severity depends upon how deficient an individual is in the clotting factor that is affected by the disease. 

Are there other signs and symptoms of the disease other than bleeding and bruising?
Not really, but someone afflicted with the disease must know ALL of the signs and symptoms of bleeding.  While most of us think of bleeding as seeing blood and losing it out of our bodies, bleeding can also be internal.  The most common internal bleeding occurs in the joints (i.e. knees, ankles, and elbows).  Signs of bleeding in a joint are swelling, warm to the touch, tightness, tightness with pain, and with a severe bleed the joint can stop moving all together.  It is important to know these signs and symptoms because if not treated, they can lead to disabling arthritis in the joint.  If bleeding occurs in the brain, it is considered a medical emergency.  Signs of bleeding in the brain are long-lasting painful headaches, vomiting many times, changes in behavior or being very sleepy, sudden weakness or clumsiness of the arm or leg, neck pain or stiffness, double vision, difficulty walking, and convulsions or seizures.  If these symptoms occur, contact your doctor immediately and go to the nearest emergency room.

How is hemophilia treated?
Hemophilia treatment depends upon a multitude of factors.  These include what type of hemophilia, how severe it is, the person's weight and whether or not the person has developed antibodies to previous treatments.  The goal is to replace the clotting factor that the individual is missing.  This is achieved by infusing either clotting factor that is taken from human blood that is donated or clotting factor that is made in a laboratory, called recombinant factor.  The schedule of replacing clotting factor is de

pendent upon the severity of the disease.  It can be done only when an individual has a large bleed such as during surgery or an accident or clotting factor can be given two or three times a week to keep bleeding from occurring before it happens. Infusions are done at home by the hemophiliac themselves or by a caregiver.  Other, less invasive, treatments are available such as drugs that enhance the bodies ability to make clotting factor, but these are not as effective and are reserved for milder cases of hemophilia.

What else should I know about hemophilia?
Hemophilia is a disease that used to be a problem in our society.  However, we now have the knowledge and technology to allow those affected by hemophilia to live normal lives.  It is important to know as much about the disease as possible if affected by it.  Both parents and children should know what a bleed is and how it shows up.  If you need help getting information there are many resources available.  A good place to start for anyone interested in learning more is the National Hemophilia Foundation website at www.hemophilia.org.