What Is Hemophilia?

Hemophilia is a rare blood coagulation disorder, in which one of the factors needed to clot the blood is lacking. According to the U.S. Food and Drug Administration (FDA), hemophilia is usually hereditary (inherited), but can be acquired when the body develops antibodies that attack clotting factors in the blood.

Hemophilia affects nearly one out of every 10,000 males—about 23,500 people in the United States (April 2014). Females may inherit the gene and be carriers for the disease, and can develop acquired hemophilia.

Outcome varies—the lower the amount of coagulation factors, the more severe the disease. Mild hemophilia may go undiagnosed until adulthood when prolonged bleeding occurs following surgery or an injury; moderate hemophilia cases may be associated with bouts of uncontrolled bleeding; and severe hemophilia is marked by frequent episodes of bleeding into the joints and soft tissues.

The development of hematomas—accumulations of blood inside an organ, muscle, soft tissue, or body cavity—can cause potentially serious secondary symptoms. For example, bleeding into the brain may cause severe headaches, personality changes, paralysis, coma, or even death. About half of all hemophiliacs experience bleeding into the joints, resulting in arthritis-like symptoms.

Also, because hemophiliacs often require numerous transfusions of blood products, they are at increased risk for blood-borne infections such as hepatitis or AIDS, although such risks have diminished due to improvements in the methods of blood-product preparation and the screening of donated blood. With current medical treatment and vigilant self-care, even patients with severe hemophilia may live relatively normal lives.

Symptoms of Hemophilia

  • Frequent and extensive bruises
  • Prolonged bleeding that may not occur until several days after an injury or a procedure such as tooth extraction.
  • Spontaneous bleeding for no apparent reason
  • Painful uncontrolled bleeding into joints or muscles, causing swelling, tenderness, and possibly deformity. Joint pain may precede external evidence of bleeding
  • Blood in the urine or stool
  • Headache, paralysis, or coma from bleeding into the brain
  • Chronic nosebleeds
  • Excessive bleeding (e.g., from biting down on the tongue or lips, after surgery or tooth loss)
  • In newborn babies, bleeding in the head after a difficult delivery

Diagnosis of Hemophilia

  • Patient history (including family history) and physical examination are necessary.
  • Blood tests are taken to measure clotting time and blood levels of Factors VIII and IX.


Johns Hopkins Symptoms and Remedies: The Complete Home Medical Reference

Simeon Margolis, M.D., Ph.D., Medical Editor

Prepared by the Editors of The Johns Hopkins Medical Letter: Health After 50

Updated by Remedy Health Media

Publication Review By: the Editorial Staff at Healthcommunities.com

Published: 30 Aug 2011

Last Modified: 16 Jan 2015