What Is Hemophilia?
Hemophilia is a group of bleeding disorders where it takes the blood a long time to clot. Clotting is the process in which your blood changes from liquid to solid to stop the bleeding. Smalls cuts can take longer to stop bleeding, but the main worry is internal bleeding and bleeding into joints.
This is a lifelong disease, but with proper medication and treatment, most people live long and active lives.
Causes of Hemophilia:
Hemophilia is caused by a genetic problem, which is usually inherited, with the X chromosome. Our bodies have 12 clotting factors (labeled by Roman numerals) working together to start the clotting process. Having too little of factors VIII (8) or IX (9) is the cause of hemophilia. People with hemophilia will lack one or the other of VIII and IX, not both.
A male child will only inherit Hemophilia A or B from the mother, as the genetic defect is located on the X chromosome. A female can inherit the genetic defect from either parent; however, females can be carriers and exhibit no signs or symptoms of the disease if their second X chromosome compensates for the problem in the first. Hemophilia C can be passed from either parent.
Occasionally a random genetic mutation occurs and a child can be born with hemophilia even if the parents are not carriers. This is the case for about 30% of hemophilia patients.
Types of Hemophilia:
There are three types of hemophilia:
Hemophilia A - also known as Classic or Factor VIII deficiency.
Hemophilia B - Christmas disease or Factor IX deficiency.
Hemophilia C - This form is very rare in the United States and has a different inheritance pattern. Symptoms are generally mild and are caused by a lack of the clotting factor XI (11). This type of hemophilia can be inherited from either parent.
Knowing which kind of hemophilia you have is important as treatments are different.
Symptoms of Hemophilia:
Symptoms for hemophilia are excessive bleeding and quick bruising.
Bleeding can be external or internal. Examples include:
- Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
- Nosebleeds for no obvious reason
- Heavy bleeding from a minor cut
- Bleeding from a cut that resumes after stopping for a short time
- Blood in the urine (from bleeding in the kidneys or bladder)
- Blood in the stool (from bleeding in the intestines or stomach)
- Large bruises (from bleeding into the large muscles of the body)
Bleeding in the joints is another symptom of hemophilia but can go undetected. Joints will tighten, swell, be hot to touch, and painful to move. Joint bleeding that isn’t treated quickly can lead to damage within the joint.
Brain bleeding is a more serious risk with hemophilia and can be caused by a simplebump on the head or a more serious injury. Signs of brain bleeding include:
- Long-lasting, painful headaches, neck pain, or stiffness
- Repeated vomiting
- Sleepiness or changes in behavior
- Sudden weakness or clumsiness of the arms or legs or problems walking
- Double vision
- Convulsions or seizures
Diagnosis of Hemophilia:
Blood testing is the only way to diagnose hemophilia. These tests are used to find out how long it takes your blood to clot and which clotting factors are lacking or missing from your blood. Hemophilia A and B are classified into mild, moderate, or severe based on the amounts of clotting factors VIII and IX in your blood.
Mild hemophilia means you have 5% to 30% of the clotting factor levels.
Moderate refers to 1% to 5% of the clotting factor levels.
Less than 1% of clotting factor levels is classified as severe hemophilia. This kind of hemophilia is usually diagnosed in infants.
People with milder forms may not discover they have hemophilia until later in life.
Treatment for Hemophilia:
Treatment for hemophilia is different based upon which type you have. For mild Hemophilia A, treatment is given with the hormone desmopressin (DDAVP) being slowly injected into a vein, which stimulates the release of more clotting factors. Desmopressin can also be given nasally.
For moderate to severe Hemophilia A or B, bleeding may only stop after an infusion of the clotting factor (which clotting factor depends on type of hemophilia). These infusions can come from donated human blood or genetically engineered recombinant clotting factors. More infusions may be needed in cases of severe internal bleeding.
Plasma infusions are needed to stop bleeding episodes in Hemophilia C.
Preventative infusions may help prevent episodes of excessive bleeding; this can reduce the amount of time in hospitals or away from family, school or work. This type of treatment can be done at home (after training from your doctor) and can help prevent joint damage.
Additional Hemophilia Resources:
National Hemophilia Foundation – site dedicated to research for finding better treatments and cures for all bleeding and clotting disorders and their complications.
World Federation of Hemophilia - a non-profit dedicated to bettering the lives of those living with hemophilia.
Kids Health offers a page for parents with hemophilia children.
National Heart Lung and Blood Institute provides science-based, plain language information about heart, lung and blood disorders.