$Unique_ID{BRK03729} $Pretitle{} $Title{Factor IX Deficiency} $Subject{Factor IX Deficiency Christmas Disease Hemophilia B Plasma Thromboplastin Component Deficiency PTC Deficiency Hemophilia A (Classic Hemophilia) Von Willebrand Disease} $Volume{} $Log{} Copyright (C) 1987, 1988, 1989 National Organization for Rare Disorders, Inc. 480: Factor IX Deficiency ** IMPORTANT ** It is possible the main title of the article (Factor IX Deficiency) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Christmas Disease Hemophilia B Plasma Thromboplastin Component Deficiency PTC Deficiency Information on the following diseases can be found in the Related Disorders section of this report: Hemophilia A (Classic Hemophilia) Von Willebrand Disease General Discussion ** IMPORTANT** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Factor IX Deficiency is a severe genetic bleeding disorder that resembles classic Hemophilia A, although it occurs only one-fifth as often as Hemophilia A. Factor IX is a component of the blood clotting substance thromboplastin. It is deficient at birth in patients with this disorder. Factor IX Deficiency varies in severity between families and occurs most often among males. In rare instances, female carriers have been known to exhibit this deficiency in a mild form. Symptoms include prolonged bleeding episodes, and in very severe cases, joint pain and bone deformities. Symptoms Factor IX Deficiency (Hemophilia B) is marked by spontaneous or injury- related incidents of prolonged bleeding, which may occur internally as well as near or on the skin. Individuals with mild cases may experience severe bleeding only after dental extractions or surgery. In very severe cases, bleeding into any area of the body can occur, including the gastrointestinal tract and the central nervous system. In very severe cases, joints, bones or muscles may be affected. Accumulations resulting from internal bleeding inside joints, bones or muscles can cause pain and possibly deformities. Eventually, the ends of long bones may become eroded and bone surface (periosteal) pain, cell death (necrosis) and pseudocyst formation may become chronic problems. Substances which inhibit the activity of Factor IX may develop in some patients with Factor IX Deficiency after they have received transfusions over a long period of time. Causes Factor IX Deficiency is inherited as an X-linked recessive trait with incomplete penetrance. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions which are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males have only one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a fifty percent risk of transmitting the carrier condition to their daughters, and a fifty percent risk of transmitting the disease to their sons.) Symptoms are caused by a deficiency of factor IX which leads to diminished amounts of the blood clotting substance known as thromboplastin. Affected Population Factor IX Deficiency predominately affects males although cases among female carriers have been documented in the medical literature. Related Disorders Symptoms of the following disorders can be similar to those of Factor IX Deficiency. Comparisons may be useful for a differential diagnosis: Hemophilia A (classic hemophilia) is an inherited blood disorder marked by a permanent tendency to prolonged bleeding, either spontaneous or caused by injury. It is caused by a deficiency in blood factor VIII. This disorder occurs almost exclusively among males, and is characterized by prolonged clotting time, decreased production of thromboplastin, and diminished conversion of prothrombin. (For more information on this disorder, choose "Hemophilia" as your search term in the Rare Disease Database). Von Willebrand Disease is a hereditary blood clotting disorder transmitted as a dominant trait. This disorder is characterized by a tendency to bleed primarily from the mucous membranes with prolonged bleeding time, normal platelet count with possible defects, as well as partial and variable deficiency of blood factor VIII. Increased risk of excessive bleeding following surgery, dental procedures, or injury, occurs in patients with this disorder. With proper treatment and appropriate precautions, few patients become seriously handicapped by Von Willebrand Disease. The tendency to prolonged bleeding usually decreases with age. (For more information on this disorder, choose "Von Willebrand" as your search term in the Rare Disease Database). Therapies: Standard Treatment of Factor IX Deficiency consists of transfusions of prothrombin complex concentrates rich in factor IX, and/or transfusions of fresh frozen plasma. Fresh frozen plasma is useful for minor episodes of bleeding, whereas prothrombin concentrates are most effective for treating severe bleeding episodes. The risk of contracting AIDS or hepatitis exists when prothrombin concentrates from an infected donor are not screened properly and are used to treat Factor IX Deficiency patients. Additionally, there is a possibility that the increased amounts of Factor IX may cause blood clotting inside veins. Dental extractions and all surgical procedures should be undertaken only with careful precautions. When pseudotumors develop inside joints, muscles or bones, they may be removed surgically if they cause pain and disability. Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive. (For more information, see the AIDS Update section of NORD Services.) Therapies: Investigational Severe cases of Factor IX Deficiency may be treated with plasmapheresis when conventional procedures are not successful in controlling bleeding. This experimental procedure is a method for removing unwanted substances (toxins, metabolic substances and plasma parts) from the blood. Blood is removed from the patient and blood cells are separated from plasma. The patient's plasma is then replaced with other human plasma and the blood is retransfused into the patient. This therapy is still under investigation to analyze side effects and effectiveness. More research is needed before plasmapheresis can be recommended for use in all but the most severe cases of Factor IX Deficiency. Monoclonal Factor IX is being used in the replacement treatment and prophylaxis of hemorrhagic complications of Factor IX Deficiency. It is manufactured by Armour Pharmaceutical Co., 920A Harvest Dr., Suite 200, Blue Bell, PA 19422. This disease entry is based upon medical information available through October 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Factor IX Deficiency, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Hemophilia Foundation The Soho Building 110 Greene Street #406 New York, NY 10012 (212) 219-8180 Canadian Hemophilia Society, National Office 100 King Street West, Suite 210 Hamilton, Ontario L8P 1A2 World Federation of Hemophilia 1155 Dorchester Boulevard West, Suite 1517 Montreal, Quebec, H3B 2L3 Canada (514) 866-0442 The Haemophilia Society P.O. Box 9 16 Trinity Street London SE1 1DE England 01-407-1010 NIH/National Heart, Lung and Blood Institute (NHLBI) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7TH Ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1385-1386. THE METABOLIC BASIS OF INHERITED DISEASE, 5th Ed.: John B. Stanbury, et al., eds.; McGraw Hill, 1983. Pp. 1549-1550. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1014. INDUCTION OF SPLIT TOLERANCE AND CLINICAL CURE IN HIGH-RESPONDING HEMOPHILIACS WITH FACTOR IX ANTIBODIES: I.M. Nilsson, et al.; Proc Natl Acad Sci (December 1986, issue 83(23)). Pp. 9169-9173. REPAIR OF VENTRICULAR SEPTAL DEFECT AND AORTIC REGURGITATION ASSOCIATED WITH SEVERE HEMOPHILIA B: A. Mazzucco, et al.; Ann Thorac Surg (July 1986, issue 42(1)). Pp. 97-99.