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GLOSSARY

Glossary

Activated Prothrombin Complex Concentrates—Two prothrombin complex concentrates are purposely "activated" so that they contain some FIX, FX, etc. in active form (FIXa, FXa, etc.). Autoplex T and FEIBA are to be used in inhibitor patients only.

Antifibrinolytic—Inhibiting the breakdown of fibrin, the blood component that forms the essential portion of a blood clot.

Artificial insemination—A method in which donor sperm are injected into the woman's uterus in order to fertilize her egg.

Autosomal—Relating to any chromosome that is not a sex chromosome.

Afibrinogenemia—The absence of fibrinogen from the blood. Base pairs—The smallest piece of information in a gene.

Carriers—Individuals who carry the gene for a condition but do not have the condition themselves.

Chromosomes—threadlike structures inside human cells that contain thousands of genes and that are passed down through families.

Cloned—Genes that have been copied by chemical methods in a laboratory.

Clotting factors—Proteins needed to make blood clot.

Coagulation Factor IX Concentrate—Factor IX products which contain very little or no coagulation factors other than FIX, which include AlphaNine SD and Mononine.

Coagulopathy—A disorder that prevents normal clotting of the blood.

Deoxyribonucleic acid (DNA)—The chemical substance that makes up genes.

Desmopressin (DDAVP, Stimate)—Desmopressin acetate is a synthetic analogue of the natural pituitary antidiuretic hormone, 8-arginine vasopressin. When given to persons who have the capability of producing some FVIII or vWF, the drug effects a rapid, transient increase in FVIII and vWF. It can be given intravenously, subcutaneously, or by intranasal spray. The intranasal spray form is called Stimate.

Dry Heat Treated—No currently available FVIII products are exclusively dry heat-treated. Currently available FIX products that are dry heat-treated include Proplex T and Konyne 80. Proplex T is dry-heated at 60oC for 144 hours. Konyne 80 is heated at 80oC for 72 hours.

Dysfibrinogenemia—Malfunction of fibrinogen in the blood.

Factor VIII Products Rich in von Willebrand Factor—In certain plasma-derived FVIII concentrates, the high molecular weight multimers of von Willebrand factor are preserved. One product, Humate-P, has been approved by the FDA for use in patients with von Willebrand disease. Two other products, Alphanate and Koate DVI, may also be effective in preventing or controlling bleeding in persons with vWD. There is also a vWF product manufactured in France that is currently in U.S. clinical trials sponsored by the American Red Cross.

Fibrinogen—Factor I, a protein in the blood that is converted to fibrin by the action of thrombin.

Gene sequence—The order of base pairs in a gene.

Gene therapy—Methods to correct a gene mutation by adding an intact (normal) one or changing one that is already present. Genes—Units of DNA that contain all the hereditary information needed to make a product, such as a protein.

Genetic markers—DNA pieces that are easy to identify but that themselves have nothing to do with the gene being examined, such as the gene for hemophilia.

Germline mosaicism—A situation that occurs when mutations are found in some, but not all, of a woman's eggs. These mutations occur during egg cell development and are not found in the woman's other cells, such as blood cells.

Germline therapy—Gene therapy directed at embryos; this method replaces all of the altered genes that cause disease so that the gene is not passed on to future generations.

Glycoprotein—A protein compound that also contains carbohydrate.

Heated in Aqueous Solution (Pasteurized)—Factor VIII concentrates that are heated for 10 hours at 60oC in aqueous solution in the presence of stabilizers such as sucrose or neutral amino acids. Products include Humate-P and Monoclate P.

Hereditary disease—A disease that can be passed down through families.

Hypofibrinogenemia—A low or deficient level of fibrinogen in the blood.

Immunoaffinity Purified—Factor VIII or FIX concentrates that are purified using murine monoclonal antibodies attached to an affinity matrix. Viral attenuation is augmented before immunoaffinity purification by pasteurization (Monoclate P) or by detergent-solvent treatment (Hemofil M and Monarc-M). In the case of Mononine (a coagulation FIX product), viral attenuation is augmented by sodium thiocyanate and ultrafiltration.

Inherited—Passed down through families.

Invasive procedure—A procedure that requires cutting into the body.

Inversion—A part of a gene that is flipped around so that it can no longer be "read" in the correct direction.

In vitro fertilization—a technique in which sperm and eggs are mixed together outside the body (usually in a glass laboratory plate) with the goal of creating a fertilized egg.

Lyonization—The process of shutting down one of the X chromosomes in each female cell. Usually, half of the cells shut down one of the X chromosomes and the other half shut down the other one.

Maternal transmission—When a gene is passed from the mother.

Mutation—A defect or change in a gene.

Noninvasive procedure—A procedure that does not require cutting into the body.

Nonrandom X inactivation—A phenomenon in which all the cells in a woman's body shut down the same X chromosome.

Obligate carrier—A woman who, on the basis of family history, definitely carries the gene for hemophilia. Obligate carriers can be (1) the daughter of a biological father with hemophilia; (2) the mother of more than one son with hemophilia; or (3) the mother of a son with hemophilia who has one other blood relative with hemophilia.

Paternal transmission—when a gene is passed from the father.

PCCs—Prothrombin complex concentrates. These are plasma-derived and can be used to treat patients with deficiencies of factors II, VII and X as well as certain patients with inhibitors to factors VIII and IX. These products vary in the amount of factor they contain.

Platelet—A component of blood that contributes to coagulation.

Prenatal diagnosis—Determining the medical condition of a child before it is born.

Protein—Any of a large class of substances consisting of amino acids. Proteins occur in all animal and vegetable matter and are necessary for growth and repair.

Prothrombin—Factor II, a protein in the blood that is converted to thrombin in the coagulation process.

Prothrombin Complex Concentrate—PCC contains factors II, VII, IX, and X and proteins C and S (plus small amounts of activated coagulation factors). Examples of these products include Bebulin VH, Konyne 80, Profilnine SD, and Proplex T.

Recombinant Factor—Recombinant (r) FVIII refers to genetically engineered or cloned FVIII that is not derived from human or animal plasma. Currently licensed rFVIII products are Recombinate and Kogenate. Recombinate is also distributed under the trade name Bioclate, and Kogenate is distributed as well under the name Helixate.
• A recombinant FIX (rFIX) product, BeneFix, has also been licensed.
• A recombinant factor VIIa product (NovoSeven) has recently been licensed in the United States. No human serum proteins are used in its production or formulation.
• Another rFVIII product, ReFacto, a deletion rFVIII product that lacks the B domain and contains no albumin stabilizer, has just been licensed in the U.S.

Restriction enzymes— Proteins that cut DNA at specific sites.

Solvent Detergent Treated— Factor VIII concentrates that are manufactured using combinations of the solvent, Tri(n-Butyl) Phosphate (TNBP), with a detergent, such as cholate, Tween 80 (polysorbate), or Triton-X-100, to inactivate lipid-enveloped potential viral contaminants (lipid-enveloped viruses include HIV, HBV, HCV). Alphanate and Koate DVI are solvent-detergent treated using TNBP and Polysorbate 80. Hemofil M and Monarc-M are solvent-detergent treated with TNBP and Triton X-100. A coagulation FIX product (AlphaNine SD) is solvent-detergent treated using TNBP and Polysorbate 80, as is the prothrombin complex concentrate Profilnine SD.

Thrombin—An enzyme derived from prothrombin that converts fibrinogen to fibrin.

Vapor Treated—Two coagulation products currently licensed in the U.S. use vapor (steam) treatment for viral attenuation. Bebulin, a FIX complex concentrate, and FEIBA VH, an activated prothrombin complex concentrate, are both vapor treated for 10 hours at 60oC and 1190 mbar pressure, followed by 1 hour at 80oC under 1375 mbar pressure.

von Willebrand factor—A protein that carries factor VIII in the blood and helps factor VIII work properly.

X-linked—Genes that are present on the X chromosome.

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