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Information on Hemophilia Symptoms, Causes, Treatment
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hemophelia
What is Hemophilia?
Hemophilia is the oldest known hereditary bleeding disorder. There are two types
of hemophilia, A and B (Christmas Disease). Both are caused by low levels or
complete absence of a blood protein essential for clotting. Patients with
hemophilia A lack the blood clotting protein, factor VIII, and those with
hemophilia B lack factor IX. There are about 20,000 hemophilia patients in the
United States. Each year, about 400 babies are born with this disorder.
Approximately 85% have hemophilia A and the remainder have hemophilia B.
The
severity of hemophilia is related to the amount of the clotting factor in the
blood. About 70% of hemophilia A patients have less than one percent of the
normal amount and, thus, have severe hemophilia. A small increase in the blood
level of the clotting factor, up to five percent of normal, results in mild
hemophilia with rare bleeding except after injuries or surgery. Enormous
strides made in assuring the safety of the blood supply and in the genetic
aspects of hemophilia research allow us now to focus on issues which will
improve the quality of life of the hemophilia patient and, ultimately,
develop a cure.
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Causes of Hemophilia
Hemophilia is a genetic disease. A defective gene located on the X chromosome causes hemophilia. Men who have the defective gene will have hemophilia since they possess only one X chromosome. Since females have two X chromosomes, they will develop hemophilia only if both chromosomes carry the defective gene. However, females are carriers of this trait and will pass on the defective chromosome to fifty percent of their offspring.
Approximately one fifth of hemophilia B cases and one third of hemophila A cases occur from a spontaneous gene mutation with no family history of the disorder. In spontaneous cases such these, the gene can be passed on to offspring.
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Hemophilia Symptoms
The signs and symptoms of bleeding disorders vary from person to person and vary depending upon the disorder. The symptoms of hemophilia can include:
- heavy bleeding during monthly periods (menorrhagia),
- unusual bleeding after injury or surgery,
- bleeding from small cuts that starts and stops over several hours,
- frequent or prolonged nosebleeds, and
- unusual bleeding from the mouth or gums or after a tooth extraction.
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Hemophilia TreatmentCases of severe hemophilia will sometimes involve a doctor giving regular factor replacement treatments (a therapy called prophylaxis - literally "preventative treatment") to prevent most bleeding episodes. Also, episodes of spontaneous bleeding can be partially controlled with regular exercise to strengthen muscles and protect joints; however, under no circumstances should such a program be undertaken without the consent and direction of a physician.
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Complications
Major complications stem from the psychological impact of a chronic disease on children, adolescents, and their families to life-threatening cerebral hemorrhage.
Some hemophilia patients develop antibodies (inhibitors) to the coagulation factors used to prevent bleeding. Approximately 15 percent of severe hemophilia A patients and 2.5 percent of hemophilia B patients develop such antibodies after exposure to transfused factors. When inhibitors are present in large amounts, the patient may require very high and expensive quantities of transfused clotting factors to stem bleeding, and, in some instances, even that may not be effective. The factor VIII products produced through biotechnology have been found to cause inhibitors in only about 5 percent of patients and are, thus, safer in this respect.
In the absence of prophylactic therapy, now recommended to begin at one to two years of age, potentially disabling arthritis occurs in joints that have experienced hemorrhage (hemarthrosis).
Pseudotumors -- cysts that arise from hemorrhage in muscle or the covering of the bone which then damage adjacent muscle, nerve, and bone -- also occur and must be excised completely to avoid recurrence.
There are also life-long concerns about availability, cost, and purity of replacement factor products.
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Research on Hemophilia
Although treatment for hemophilia has become safer, therapeutic products are still not risk free. The ultimate goal is to offer a cure for the disease. Hemophilia is known to be caused by defects in the genes for factor VIII and factor IX. The challenge is to transfer normal genes into a patient so that they will produce the normal clotting protein. A small amount of active factor produced by the patient's own body will correct the disease. Although much remains to be studied before such treatment can be offered to patients, there have been a number of studies done in animals such as mice and dogs in which a factor VIII or IX gene has been inserted and has produced the proper blood product for periods that exceed one year. Major issues that remain to be resolved include the low level of production of the clotting factor, reduction of immune reactions that stop the production after a period, and development of ways to insert the gene directly into the body without manipulating cells outside the body. Until recently, dogs with naturally occurring hemophilia were used for testing of gene therapy techniques; however, the number of such animals is very limited. Recently, a mouse model of hemophilia produced through genetic technology was announced. The availability of this small animal will accelerate the development of technologies for ultimate use in humans.
Hemophilia Pictures
No pictures of hemophilia are currently available.
Keeping on Top of Your Condition
Keeping in tune with your disease or condition not only makes treatment less intimidating but also increases its chance of success, and has been shown to lower a patients risk of complications. As well, as an informed patient, you are better able to discuss your condition and treatment options with your physician.
A new service available to patients provides a convenient means of staying informed, and ensures that the information is both reliable and accurate. If you wish to find out more about HealthNewsflash's innovative service, take the tour.
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More Information on Hemophilia
Information about hemophilia is available from these
organizations:
Hemophilia Federation of America
102B Westmark Boulevard
Lafayette, Louisiana 70506
Phone: 337-991-0067, 1-800-230-9797
Fax: 337-991-0087
Internet: http://www.hemophiliafed.org/
The World Federation of Hemophilia
1425 ReneLevesque Blvd. W. Suite 1010
Montreal, Quebec H3G 1T7 Canada
Phone: (514) 875-7944
Fax: (514) 875-8916
Internet: http://www.wfh.org/
National Hemophilia Foundation
116 West 32nd Street, 11th Floor
New York, NY 10001
Phone: (212) 328-3700
Fax: (212) 328-3777
Internet: http://www.hemophilia.org/
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