Hemophilia is an inherited disorder in which the blood fails to clot normally. It is characterized by heavy bleeding after a minor injury, spontaneous bruising, and frequent nosebleeds. Joints, particularly the knee and elbow, are often swollen and painful due to bleeding into the joint space. A person with hemophilia lacks a clotting factor, a protein that goes into action when the wall of a blood vessel is damaged. In hemophilia A, about 80 percent of all cases, the deficiency is in clotting factor VIII. In hemophilia B, clotting factor IX is lacking. Both produce the same symptoms, but treatment differs in that the specific missing clotting factor must be replaced. The disease is an X-linked type; that is, the mother carries the defective gene but does not have the disorder. A son who inherits the gene will develop the disease; a daughter who inherits it will become a carrier who is not likely to be affected. As with other X-linked disorders, the hemophilia gene cannot be passed from father to son. There are rare cases in which a defective gene seems to develop spontaneously without a hereditary history.
Other Causes of Easy Bleeding
Diagnostic Studies And Procedures
A review of symptoms can provide a tentative diagnosis of hemophilia, but blood tests are necessary to confirm it. Clotting time will be determined, and other blood studies will be done to measure for the factors VIII and IX.
At the first signs of bleeding, the missing clotting factor is administered. (The concentrated clotting factor is obtained from many units of blood that are frozen until needed, then thawed and reconstituted with plasma.) The frequency of transfusions depends on the severity of the disease and the particular circumstances. For example, extra transfusions may be given before surgery or dental work. Because the clotting factor for even one transfusion is derived from dozens of donors, hemophiliacs face a high risk of hepatitis and other blood borne diseases. Before a screening test for HIV, the virus that causes AIDS, was developed in 1986, a tragically high number of hemophiliacs contracted this deadly disease. Clotting factor transfusions are now heat treated to kill HIV, but hepatitis remains a risk; hepatitis immunization is advocated for all hemophiliacs. Any bleeding episode is potentially an emergency for a hemophiliac. Controlling bleeding requires the care of a hematologist who is trained in the management of the disease.
Alternative therapies should be used only to supplement conventional medical treatment.
Pain and swelling in joints may be alleviated by applying ice packs, which can also slow bleeding. Once bleeding has stopped, soaking in a tub of warm water may be soothing. (Avoid hot packs or warm water during a bleeding episode because heat increases the flow of blood.) The gentle swirling of a whirlpool or Jacuzzi may also help to reduce pain. Exercises performed in water not only relieve joint pain, but are also among the safest forms of physical activity for a hemophiliac. Many communities now offer therapeutic swimming sessions with a physical therapist or sports medicine specialist.
Supplements of calcium, niacin, and vitamins C and K, essential to clotting, may be advocated.
Physical therapists can design specific exercise programs to help maintain full range of motion and prevent disability.
The most important aspect of self care is prevention of bleeding episodes. Learn the early warning signs of dangerously low levels of clotting factor, such as joint and muscle pain, swelling, and bruising. Avoid contact sports and other activities that carry a high risk of injury. And always wear a protective helmet and knee and elbow pads when engaging in any activity that carries the risk of a fall or blow. Learn emergency techniques for controlling bleeding and take immediate first aid action if it occurs. If the site of bleeding is accessible, apply direct pressure to it with your hand. As quickly as possible, apply an elastic bandage and an ice pack. If ice is not available, press the flat side of a knife or spoon to the bruised area for 5 to 10 minutes. If bleeding persists, or there is evidence of internal bleeding, seek emergency treatment. A person with hemophilia should never take aspirin or other medication that interferes with blood clotting. Acetaminophen for pain relief is usually safe, but a doctor should always be consulted before taking any nonprescription remedy or vitamin supplements. Preventive dental care is also very important to avoid the potential problems of dental surgery. Hemophiliacs should at all times wear a medical identification bracelet or pendant detailing their condition.