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$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.