What is hemophilia?
Hemophilia is a rare genetic disorder that limits the blood’s ability to clot. This condition can cause prolonged or excessive bleeding, which may occur spontaneously or following an injury or medical or dental procedure.
Hemophilia is usually inherited from parents who have hemophilia or carry the abnormal gene. The gene prevents or limits the body’s ability to create blood proteins, called clotting factors or coagulation factors, required for normal clotting. Because this disease is hereditary (family history), most people with hemophilia are identified before a serious bleeding event. Laboratory testing can promptly confirm the diagnosis of hemophilia.
Hemophilia almost always occurs in males. Approximately one in 5,000 males is born with hemophilia, and an estimated 20,000 individuals in the United States are living with hemophilia (Source: CDC).
Many individuals with hemophilia can manage its symptoms through replacement therapy. In this treatment, the missing or limited clotting factors are replaced with proteins derived from human blood or created in the laboratory. This therapy may be given to treat bleeding that has already begun or to prevent bleeding from occurring.
Hemophilia may cause uncontrolled internal or external bleeding. Left untreated, uncontrolled bleeding may cause damage to joints, muscles, or internal organs and may be life threatening. Seek immediate medical care (call 911) for serious symptoms, including heavy external bleeding, blood in the urine or stool, double vision, severe head or neck pain, repeated vomiting, difficulty walking, convulsions, or seizures. Seek prompt medical care if you experience mild but unstoppable external bleeding or joint swelling and stiffness.
What are the symptoms of hemophilia?
Symptoms of hemophilia include excessive bleeding that may occur spontaneously or following injury, surgery, or other incident. You may observe prolonged external bleeding in the mouth or nose or following a cut on the skin. You may experience additional symptoms that could indicate that bleeding is occurring in the joints, internal organs, or brain.
Common symptoms of hemophilia
You may experience hemophilia symptoms daily or just once in a while. At times, any of these hemophilia symptoms can be severe. These symptoms may occur spontaneously:
- Bleeding of the mouth and gums
- Frequent nosebleeds
- Hematuria (blood in the urine)
- Melana (black tarry stool from spontaneous gastrointestinal bleeding)
Symptoms of hemophilia following injury or procedures
Hemophilia reduces the blood’s ability to clot. Although some bleeding may be expected after a minor procedure or injury, excessive or prolonged bleeding is a symptom of hemophilia. Seek medical attention if heavy bleeding occurs or the bleeding cannot be stopped. Excessive bleeding may occur after:
- Dental procedures
- Loss of a tooth
- Minor trauma or cut
- Receiving an injection (shot)
Symptoms of joint bleeding caused by hemophilia
Hemophilia may cause bleeding in your elbows, knees, or other joints. The following symptoms may indicate that you are bleeding in your joints:
- Joint feels hot to the touch
- Joint pain
- Joint swelling
- Joint tightness
- Reduced mobility (range of motion of the joint)
Serious symptoms that might indicate a life-threatening condition
In some cases, hemophilia may cause bleeding in your brain or internal organs, which can be life threatening. Seek immediate medical care (call 911) if you, or someone you are with, have any of these life-threatening symptoms of internal bleeding including:
- Abdominal pain
- Bloody or pink-colored urine (hematuria)
- Bloody stool (the blood may be red, black, or tarry in texture)
- Confusion or loss of consciousness for even a brief moment
- Convulsions or seizures
- Gradual difficulty walking and speaking, memory loss, tingling, or weakness of extremities
- Loss of vision or changes in vision
- Repeated vomiting
What causes hemophilia?
Hemophilia is a genetic disorder. It is caused by a defect in the gene that regulates the body’s production of a blood-clotting protein, or clotting factor. If the gene is abnormal, the body’s ability to produce the clotting factor will be reduced or absent.
The gene for hemophilia is located on the X chromosome. Males have one X and one Y chromosome, and females have two X chromosomes. If a male has the abnormal gene on his single X chromosome, he will have hemophilia. Hemophilia is less common in females, because they must have the abnormal gene on both X chromosomes to be affected.
A female with the abnormal gene on only one X chromosome is a carrier of the hemophilia gene. She may pass the gene on to her children. A carrier may also experience some of the symptoms of hemophilia.
What are the risk factors for hemophilia?
A number of factors increase the risk of developing hemophilia. Not all people with risk factors will get hemophilia. Risk factors for hemophilia include:
- Male gender
- Parent or sibling with hemophilia
How is hemophilia treated?
Treatment for hemophilia begins with seeking medical care from your health care provider. To determine whether you have hemophilia, your health care provider will likely draw blood samples for laboratory testing.
Replacement therapy to treat hemophilia
The goal of hemophilia treatment is to replace the missing blood-clotting protein, called a clotting factor. The replacement clotting factor may come from human blood or be created in the laboratory. Replacement proteins from human blood are called plasma-derived factor concentrates. These factors from human blood are screened and treated to prevent transfer of viruses or other diseases. Replacement proteins created in a laboratory are called recombinant factor concentrates. Both types of concentrates are administered through injection or intravenous drip into a vein.
Hemophilia treatment may be performed as needed to stop bleeding when it occurs. Depending on the severity of your hemophilia, your health care provider may also decide that regular therapy may be appropriate to prevent bleeding. After proper instruction, you may perform the regular therapy at home.
Medications used to treat hemophilia
When appropriate, your health care provider may prescribe the following medications to treat hemophilia:
Aminocaproic acid (Amicar), which prevents the breakdown of blood clots and may be used to limit bleeding in the mouth during dental procedures
Desmopressin acetate (DDVAP or Stimate), which may be used to release blood-clotting proteins stored in the body in cases of mild to moderate hemophilia
What you can do to improve your hemophilia
In addition to following your health care provider’s instructions and taking all medications as prescribed, you can lessen the effects of hemophilia by:
Having regular check-ups with your health care provider. These check-ups should include testing for blood-borne diseases.
Informing your dentist that you have hemophilia so that he or she can take appropriate precautions to limit bleeding during procedures
Receiving immunizations for hepatitis A and B
Protecting your joints through regular exercise and maintaining a healthy weight
Seeking prompt treatment when bleeding occurs
What are the potential complications of hemophilia?
Getting prompt treatment when bleeding begins is important to prevent or limit further injury or damage. Complications of untreated hemophilia can be serious, even life threatening in some cases. You can help minimize your risk of serious complications by following the treatment plan you and your health care professional design specifically for you. Complications of hemophilia or its treatment include:
Deep internal bleeding
Development of an antibody to the clotting factor concentrate used to treat or prevent bleeding. The antibody keeps the clotting factor concentrate from working effectively to stop bleeding.
Joint deformity and destruction