Hemophilia Terms

AIDS (Acquired Immune Deficiency Syndrome) – A disease that attacks and destroys the body’s immune system, leaving the patient extremely vulnerable to infections and other diseases.

Bleeding Disorders – A group of conditions in which a person’s body cannot properly develop a clot, causing an increased chance of bleeding.

Carrier – An individual who possesses the gene for a condition, such as hemophilia, but does not necessarily have the condition.

Coagulation disorders – a large group of disorders in which a person experiences excessive bleeding or alternatively, clotting.

Clotting factors – These are important proteins needed to form fibrin, which helps form blood clots.

Factor deficiencies – These are conditions identified by the particular missing clotting factor a person’s body produces. These conditions include: Factor I, II, V, VII, VIII, IX, X, XI, XII, and XIII.

Gene – A section of DNA, the code of the body that controls production of a protein.

Gene therapy – A method of supplementing, manipulating or replacing a dysfunctional gene with a healthy functioning one. This amazing technique is currently being researched in several inherited diseases, including hemophilia. There is hope that gene therapy will lead to better treatments, and eventually cures for these diseases.

Hematologist – A physician who specializes in blood disorders.

Hemophilia – A bleeding disorder in which a specific clotting protein, namely factor VIII or IX, is missing or does not function normally.

Hemophilia A – A deficiency or absence of factor VIII. It has also been called “classic” hemophilia.

Hemophilia B – A deficiency or absence of factor IX. It has also been called “Christmas Disease,” after the first patient that was identified with the disease.

Mild Hemophilia – A categorical term used to describe someone with a factor VIII or IX level ranging from 5% to 40% of normal blood levels of factor.

Moderate Hemophilia – A categorical term used to describe someone with a factor VIII or IX level ranging from 1% to 5% of normal blood levels of factor.

Severe Hemophilia – A categorical term used to describe someone with a factor VIII or IX level below 1% of normal blood levels of factor.

Hemophilia Treatment Centers (HTCs) – A group of federally-funded hospitals that specialize in treating patients with coagulation disorders. Each center has at least a hematologist, a nurse, a social worker, and a physical therapist working as a team to deliver comprehensive care to patients and families.

Hereditary disease – A condition that is genetically passed down from parent to child.

HIV (Human Immunodeficiency Virus) – The virus that causes AIDS.

Infusion – A means of delivering treatment to people with bleeding disorders intravenously. This method is used to introduce clotting factor concentrate directly into a vein where it can go to work immediately.

Inheritance – The biological process of transmitting characteristics or conditions from parents to child.

Inhibitor – An antibody that develops as a result of infused clotting factor concentrates. As a result of this rare complication, standard treatment temporarily doesn't work.

Platelets – These are tiny “plate-like” components of blood that help to form clots and stop bleeding.

Prophylaxis or "Prophy" – A regular treatment regimen that prevents bleeding episodes among people with hemophilia.

Spontaneous mutation – The development of a hereditary disease such as hemophilia where there is no family history of the disease.

Target joint – A particular joint that has experienced repeated bleeds or at least four bleeds into one joint within a six month period.

von Willebrand's Disease – A bleeding disorder in which a blood protein called von Willebrand factor is either missing or does not function properly. Von Willebrand disease is the most common bleeding disorder and can be inherited by both men and women equally.

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