It affects mostly males, as it is an X chromosome linked condition. Hemophilia affects 1 in 5,000 male births in the U.S. and approximately 400 babies are born with hemophilia each year. 400,000 people worldwide are living with hemophilia and about 20,000 are living with it in the United States alone. All races and economic groups are affected equally. People with hemophilia who have access to factor replacement therapy have a normal life expectancy.
Types of Hemophilia
Bleeding disorders are treated differently depending on what protein is missing in the blood. Hemophilia is one of the most common bleeding disorders and is classified as follows:
- Hemophilia A – Also called classic hemophilia, it is 4 times more common than hemophilia B, and it occurs when factor VIII levels are deficient.
- Hemophilia B – Also called Christmas disease, it occurs when factor IX levels are deficient.
- Hemophilia C – It occurs when factor XI levels are deficient
- Acquired hemophilia – A person can develop hemophilia as a result of illness, medications, or pregnancy. Acquired hemophilia is extremely rare and usually resolves itself with proper diagnosis and treatment.
When you're cut or bleeding internally, your body normally pools blood cells together to form a clot to stop the bleeding. This process is called coagulation. Coagulation involves blood particles called platelets and plasma proteins that encourage clotting (clotting factors). The cause of hemophilia is a deficiency of one of these clotting factors. Which type of hemophilia you have depends on which clotting factor is deficient:
- Hemophilia A. The most common type, hemophilia A is caused by lack of enough clotting factor 8 (VIII).
- Hemophilia B. This second most common type is caused by lack of enough clotting factor 9 (IX).
- Hemophilia C. This type is caused by a lack of clotting factor 11 (XI), and symptoms are often mild with this type of hemophilia.
- Everyone has two sex chromosomes, one from each parent. Females inherit an X chromosome from their mother and an X chromosome from their father. Males inherit an X chromosome from their mother and a Y chromosome from their father.
- The gene that causes hemophilia A or B is located on the X chromosome, so it can't be passed from father to son. Hemophilia A or B almost always occurs in boys and is passed from mother to son through one of the mother's genes. Most women who have the defective gene are simply carriers and exhibit no signs or symptoms of hemophilia. It's also possible for hemophilia A or B to occur through spontaneous gene mutation.
- The gene that causes hemophilia C can be passed on to children by either parent. Hemophilia C can occur in both boys and girls.
A person with hemophilia can bleed inside or outside of the body. People with hemophilia do not bleed more than people without hemophilia, they just bleed longer. The most common types of bleeds are into the joints and muscles.
Other symptoms include:
- Nose bleeds
- Prolonged bleeding from minor cuts
- Bleeding that stops and resumes after stopping for only a short time
- Blood in the urine
- Blood in the stool
- Large bruises
- Easy bruising (unexplained bruising)
- Excessive bleeding with dental work or tooth extraction
- Heavy periods and/or periods lasting more than 7 days
For people with a family history of hemophilia, it's possible to test the fetus during pregnancy to determine if it is affected by the disease. However, such testing poses some risk to the fetus. Discuss the benefits and risks of testing with your doctor.
Analysis of a blood sample from either a child or an adult can show a deficiency of a clotting factor. Sometimes mild hemophilia isn't diagnosed until after a person has undergone surgery and excessive bleeding results.
While there's no cure for hemophilia, most people with the disease can lead fairly normal lives.
Hemophilia treatment varies depending on the severity of the condition:
- Mild hemophilia A. Treatment may involve slow injection of the hormone desmopressin (DDAVP) into a vein to stimulate a release of more clotting factor to stop bleeding. Occasionally, desmopressin is given as a nasal medication.
- Moderate to severe hemophilia A or hemophilia B. Bleeding may stop only after an infusion of clotting factor derived from donated human blood or from genetically engineered products called recombinant clotting factors. Repeated infusions may be needed if internal bleeding is serious.
- Hemophilia C. The clotting factor missing in this type of hemophilia (factor XI) is available only in Europe. In the U.S., plasma infusions are needed to stop bleeding episodes.
Regular preventive infusions of a clotting factor may help prevent bleeding. This approach may reduce time spent in the hospital and away from home, work or school and limit side effects such as damage to joints. Your doctor or child's doctor can train you to perform infusions of desmopressin or the clotting factor at home, work or school.
Another class of drugs called antifibrinolytics is sometimes prescribed along with clotting factor replacement therapy. These medications help prevent clots from breaking down.
If internal bleeding has damaged joints, physical therapy can help them function better. Therapy can preserve their mobility and help prevent frozen or badly deformed joints. In cases where repeated bouts of internal bleeding has damaged or destroyed joints, an artificial joint may be needed.
For Minor Cuts:
If you or your child experiences a small cut or scrape, using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.
Complications may occur from the condition or from the treatment for the condition:
- Deep internal bleeding. Hemophilia may cause deep muscle bleeding that leads to swelling of a limb. The swelling may press on nerves and lead to numbness or pain. This may result in a reluctance to use that limb.
- Damage to joints. Internal bleeding may also put pressure on and damage joints. Pain sometimes may be severe, and you may be reluctant to use a limb or move a joint. If bleeding occurs frequently and you don't receive adequate treatment, the irritation may lead to destruction of the joint or the development of arthritis.
- Infection. People with hemophilia are more likely to receive blood transfusions and are at greater risk of receiving contaminated blood products. Until the mid-1980s, it was more likely for people with hemophilia to become infected with the human immunodeficiency virus (HIV) or with hepatitis through contaminated blood products. Since then, blood products are much safer because of steps taken to screen the supply of donated blood. The risk of infection through blood products also has decreased substantially since the introduction of genetically engineered clotting products called recombinant factors, which are free of infection. However, it's still possible for people who rely on blood products to contract diseases. If you have hemophilia, consider receiving immunization against hepatitis A and B.
- Adverse reaction to clotting factor treatment. In some people with hemophilia, the immune system sees these clotting factor treatments as foreign. When this happens, the immune system develops proteins that inactivate the clotting factors used to treat bleeding. Researchers are investigating treatments to dampen the immune system's response and allow continuing treatment with clotting factors.