Glossary

Anemia – A condition in which the blood is either deficient in red cells, in hemoglobin, or in total volume.

Antifibrinolytic – Drugs that can help stop the normal breakdown of blood clots and help speed recovery from a bleed.

Antihistamine – A drug that can reduce or prevent allergic reactions.

Anti-inflammatory – A drug that can reduce or prevent pain, redness, and swelling caused by inflammation (the body’s reaction to irritation, injury, or infection).

Artery – A large tube or blood vessel that carries blood from the heart through the body. The body has several arteries.

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.

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

Calf – The area of the leg between the knee and the ankle.

Capillary – Any of the very small tubes or blood vessels that form a network to carry blood through the body. The body has many capillaries

Carrier – person who carries a gene that causes a disorder, usually showing no symptoms.

Cartilage – The smooth surface covering the ends of the bones in a joint.

Cell – The smallest independent living thing on earth. The human body is made of trillions of tiny cells.

Chromosome – A very fine, threadlike strand of proteins and DNA in the centre of human, animal, and plant cells. Two chromosomes (called X and Y) decide a person’s sex. Females are born with two X-chromosomes (XX = girl).  Males are born with one X and one Y chromosome (XY = boy).

Clot – A thick lump of blood formed by clotting factors that work together to help stop bleeding.

Cryoprecipitate – A treatment product made from blood plasma. It contains proteins, such as factor VIII (eight) and von Willebrand factor, but not factor IX (nine). It is infused into a vein over a period of time. First discovered by Dr. Judith Graham Poole in 1965.

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.

Clotting factors – These are important proteins needed to form blood clots.

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.

Diluent – The liquid that is mixed with factor concentrate powder. The final product is injected to treat bleeds.

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.

Factor concentrate – A type of treatment that replaces the missing factor VIII (eight) or IX (nine) by injection into a vein. Factor can be made from human blood plasma and then dried to a powder. This is dissolved in diluents before injection. See recombinant for description of another kind of factor concentrate.

Gene – A section of DNA, the chemical code of the body that controls production of a protein. Genes carry messages about the way the cells of the body work. For example, they determine a person’s hair and eye colour. Hemophilia is passed on through a person’s genes.

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.

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.

Hemophilic arthritis – Inflammation of a joint, usually with pain and swelling, due to repeated bleeds. Cartilage in the joint breaks down and some bone wears away. Sometimes the joint cannot move.

Home Therapy – Injection or infusion with a treatment product away from the hospital, usually at home.

Infusion – Injection of a treatment product into a vein.

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.

Joint – The place where two bones meet.

Joint capsule – The area or sleeve that holds the bones together in a joint (where two bones meet).

Nerve – The sensitive, cordlike fibers that pass messages through the body, including pain.

NSAIDS or non-steroidal anti-inflammatory drug – drug, such as ibuprofen, that reduces pain and fever but does not contain steroids.

Orthopedic – A term having to do with the bones, the skeleton or associated structures.

Plasma – Part of blood that contains fibrin and clotting factors.

Platelets – The blood cells that make a plug to patch holes in arteries, veins, and capillaries.

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.

Recombinant – A type of factor concentrate that is manufactured in a laboratory instead of being separated from human blood. Recombinant proteins are copies of certain kinds of proteins found in human blood plasma.

Spontaneous bleeding – Bleeding that happens for no clear reason (not after an injury or surgery).

Synovium – The lining of the joint capsule. It is made of special cells that make a slippery, oily fluid that helps the joint move easily.

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 both men and women can inherit it equally.

Venepuncture – This can be done to take blood or to give an intravenous injection.