AIDS (Acquired Immune Deficiency Syndrome) – A disease that attacks and destroys the body’s immune system, leaving the patient abnormally vulnerable to infections and many other diseases.
Anemia – A condition in which the blood is either deficient in red cells, in hemoglobin, or in total volume.
Bleeding Disorders – A group of distinct conditions in which a person’s body cannot properly develop a clot, causing an increased tendency for bleeding.
Carrier – An individual who possesses the gene for a condition, but does not necessarily have the condition.
Asymptomatic carrier – A carrier who shows no outward signs of a condition.
Symptomatic carrier – A carrier who has low factor levels and manifests bleeding symptoms.
Coagulation disorders – a large group of conditions in which a person experiences excessive bleeding or clotting.
Chromosome – The threadlike structures inside human cells that contain genetic information. Every human being has 23 pairs of chromosomes, which are passed down from both parents.
Clotting factors – These are important proteins needed to form blood clots.
Creutzfeldt-Jakob Disease (CJD) – A human prion-related disease causing serious neurological damage. Classic CJD and new variant CJD (vCJD) are separate conditions. However, both diseases are rapidly progressive and always fatal. It is conceivable that CJD could be transmitted through blood or blood products.
Cryoprecipitate – A form of Factor VIII-concentrated plasma that was first discovered by Dr. Judith Graham Poole in 1965. While a breakthrough in treatment at that time, it is no longer used as the current standard of treatment in the United States.
Desmopressin Acetate (also DDAVP or Stimate®) – A synthetic hormone used to treat some people with mild hemophilia or von Willebrand disease. The product increases the factor VIII levels or von Willebrand factor levels in blood.
Factor Assay – A specialized lab test used to determine the level of circulating factor VIII or IX in a person’s body. The test results are reported as a percentage of normal levels.
Factor deficiencies – These are rare disorders identified by the particular deficient or missing clotting factor in a person’s body. These conditions include: Factor I, II, V, VII, VIII, IX, X, XI, XII, and XIII.
Gene – A section of DNA, the chemical code of the body that controls production of a protein.
Gene therapy – A method of replacing, manipulating or supplementing a dysfunctional gene with a functioning one. This evolving 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.
Hemoglobin - The protein that carries oxygen and carbon dioxide in red blood cells.
Hematologist – A physician who specializes in disorders of the blood.
Hemophilia – A bleeding disorder in which a specific clotting factor 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 family that was identified with the condition.
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.
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.
Severe Hemophilia – A categorical term used to describe someone with a factor VIII or IX level below 1% of normal blood levels.
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.
Hemostasis – The process by which the body stops bleeding. It is the stoppage of blood flow through a blood vessel or an organ of the body.
Hepatitis – A group of viruses that can lead to infection and inflammation of the liver.
Hereditary disease – A condition that is genetically passed down to one’s offspring.
HIV (Human Immunodeficiency Virus) – The virus that causes AIDS.
Infusion – A means of delivering treatment to some people with bleeding disorders. This method is used to introduce clotting factor concentrate directly into a vein.
Continuous infusion – A procedure of steadily infusing clotting factor concentrate in order to maintain hemostasis. This method is primarily used in severe cases or during surgery.
Inheritance – The biological process of transmitting certain characteristics or conditions from parents to offspring.
Inhibitor – An antibody that develops in direct response to infused clotting factor concentrates. As a result of this rare complication, standard treatment is temporarily made ineffective.
Orthopedic – A term having to do with the bones, the skeleton or associated structures.
Platelets – These are tiny “plate-like” components of blood that help to seal off injured blood vessels and stop bleeding.
Prophylaxis – A treatment regimen aimed at preventing bleeding episodes among people with hemophilia.
Primary prophylaxis – A method of regularly scheduled treatments to prevent bleeding episodes before they occur. Today, the majority of people with severe hemophilia begin this regimen at a young age to prevent long-term damage to joints.
Secondary prophylaxis – A regular schedule of factor replacement usually initiated after a specific pattern of bleeding has been established or to treat a target joint.
Spontaneous mutation – The development of a hereditary disease for which there is no family history.
Target joint – A term for a particular joint that has experienced repeated bleeds or at least four bleeds into one joint within a six month period.
Thrombophilia – A categorical term for several distinct conditions where there is an increased tendency for excessive clotting.
von Willebrand Disease – A bleeding disorder in which von Willebrand factor, a blood protein, is either missing or does not function properly. Von Willebrand disease is the most common bleeding disorder since it can be inherited by both men and women equally.
Acquired von Willebrand – A form of von Willebrand disease that is not inherited, but usually develops late in life. It is caused by the development antibodies that attack and destroy a person’s von Willebrand factor. It is commonly “acquired” in conjunction with another serious disease.