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Hemophilia: Causes, Symptoms and Treatment

Hemophilia is a bleeding disorder that reduces the body's ability to form blood clots. There are several types of hemophilia, all of which can cause a person to experience increased bleeding times. A person with hemophilia can experience superficial as well as internal bleeding and bleeding in the joints.

Approximately 17,000 people in the United States have hemophilia. Although there is no cure for hemophilia, the majority of people who have this bleeding disorder can live active lives with proper treatment and care.

Hemophilia Statistics

Approximately one in every 8,000 boys is born with hemophilia. Since hemophilia A and hemophilia B are generally passed from mother to son, females rarely have these types of hemophilia, though they can inherit hemophilia C.

Types of Hemophilia

The three different types of hemophilia are:

Hemophilia A is the most common type of hemophilia and is characterized by a lack of clotting Factor VIII, a protein that aids in the formation of blood clots. One in 10,000 people has hemophilia A.
Hemophilia B, the second most common type of hemophilia, is the result of not having enough clotting Factor IX, another blood protein that aids in coagulation. One in 40,000 people has some form of hemophilia B.
Hemophilia C is a very rare type of hemophilia that isn't often seen in the United States. This type of hemophilia is caused by a lack of Factor XI, a clotting protein. People with this type of hemophilia often exhibit mild symptoms.

Causes of Hemophilia

Hemophilia is an inherited disorder that is caused by a defective gene that is passed from parent to child. Since the gene that is responsible for hemophilia A and B is carried on the X chromosome, the disease is most often seen in males and is passed from mother to son. Here's a brief explanation of how hemophilia is inherited:

Since a girl has two X chromosomes and no Y chromosome, if one X chromosome carries the hemophilia gene, the other chromosome, as long as it doesn't have the hemophilia gene, will protect her from the disease. This is why very few females have hemophilia.
Since a male has only one X chromosome and one Y chromosome, if his X chromosome has the hemophilia gene, he will have hemophilia.

If a man has hemophilia, his daughters will always be carriers of the disorder, though they will experience no symptoms. His sons, however, will not be affected unless the mother is a carrier.

This is not the case for a woman. If a woman is a carrier of hemophilia, assuming that her partner does not have hemophilia, her sons will have a 50 percent chance of inheriting hemophilia. Likewise, her daughters will have a 50 percent chance of being carriers of hemophilia.

Though approximately 70 percent of all cases of hemophilia are present at birth, 30 percent are acquired and result from changes that occur in the gene responsible for hemophilia.

Hemophilia Symptoms

The main symptom of hemophilia is intensive bleeding. Generally, a person who has hemophilia will not heal from cuts as quickly as they should and will sometimes experience bleeding for no apparent reason. This type of bleeding is called spontaneous bleeding.

Other symptoms of hemophilia include:

big, deep bruises
bleeding in a muscle, typically in muscles found in the thighs, calves and forearms
blood in urine or stool (The blood may be visible to the naked eye or observable only through a microscope.)
nosebleeds that may occur without any particular cause
swelling and pain in the joints (This is often caused by internal bleeding, with the most common sites being the elbows, ankles, shoulders and wrists.)
tightness in the joints
warm, prickly sensations in the joints.

Hemophilia Complications

Hemophilia and its treatments can cause a number of problems, including:·

infection from blood transfusions
internal bleeding
joint damage, due to internal bleeding.

Talk to your doctor about possible hemophilia complications and how you can reduce your risk for developing them.

Hemophilia Diagnosis and Treatment

If you or your partner are pregnant and either have hemophilia or have a family history of hemophilia, your doctor might want to test the fetus to determine if it has the disease.

In a child or adult where hemophilia is suspected, the doctor will likely take a blood sample and test for a deficiency of certain clotting factors.

Hemophilia treatment varies and will depend on the type of hemophilia from which a patient suffers as well as the severity of symptoms. If bleeding occurs, treatment may involve the following:

Minor Hemophilia A: Mild cases of hemophilia A can be treated with injections of desmopressin, a hormone that stimulates the release of clotting factors.
Moderate/Severe Hemophilia A and Hemophilia B: These cases of hemophilia may require clotting factor infusions.
Hemophilia C: Hemophilia C requires infusions of plasma to stop bleeding.

To help your joints, your doctor might suggest physical therapy, which can help with joint mobility. Regular exercise can also build muscle and protect joints. Good exercises for hemophiliacs include swimming, walking and yoga. Avoid contact sports, such as hockey and football.

In addition, hemophiliacs should avoid certain drugs, including aspirin, blood-thinners and non-steroidal anti-inflammatory drugs (NSAIDS), which can make bleeding worse.

Resources

Culter, Troy S. (2007). Hemophilia. Retrieved on September 26, 2007, from the eMedicineHealth.com Web site: http://www.emedicinehealth.com/hemophilia/article_em.htm.

Griffin, Gregory (2004). Hemophilia. Retrieved September 21, 2007, from the Kids Health for Parents Web site: http://kidshealth.org/parent/medical/heart/hemophilia.html.

Mayo Clinic Staff (2007). Hemophilia. Retrieved September 26, 2007, from the Mayo Clinic Web site: http://www.mayoclinic.

com/health/hemophilia/DS00218/DSECTION=3.

National Institutes of Health (2007). What is Hemophilia? Retrieved September 21, 2007, from the National Heart, Lung, and Blood Institute Diseases and Conditions Index Web site: http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/

hemophilia_what.html.