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Hemophelia
By Teddi Softley, Ph.D.
The disease
known as hemophilia was mentioned in written records as early as 2000
years ago. By the fifth century A.D. hemophilia was recognized as an
inherited disease that affects mostly males. The transmission of
hemophilia from carrier mothers to their sons was first described in the
United States in 1803. The presence of the disease among members of many
European royal families during the 19th and 20th
centuries originated with Queen Victoria, a carrier whose descendants
introduced the disorder to the royal houses of Russia, Germany and Spain.
In the 1980’s, hemophilia made the headlines as one the first human
disorders in which the responsible gene was identified and cloned.
Cause
There are
more than ten substances in the blood, called clotting factors that must
work in a specific sequence to produce blood clotting. An abnormality in
any of these factors can lead to bleeding problems. Hemophilia is caused by
a defect or deficiency in either of two clotting substances: factor VIII,
which causes hemophilia A, or factor IX, which causes hemophilia B. About
15,000 to 20,000 people in the U.S. have hemophilia. Hemophilia occurs in 1
in 5,000 live male births. Defects or deficiencies in other blood factors,
such as factors I, II, VII, X, XI and XIII, cause other coagulation
disorders, all of them much rarer than hemophilia A and B.
Besides hemophilia, there are a number of
other inherited bleeding disorders. Chief among these is von Willebrand
disease which affects about 1.3 million people in the U.S., both male and
female. Von Willebrand disease is not considered a rare disorder.
Inheritance
The defective hemophilia gene is
passed down through females who are carriers of the disorder. The result
can be the birth of sons with hemophilia, daughters who are carriers, or
children who are unaffected. A male with hemophilia automatically passes
the gene to his daughters all of whom are carriers. About one-third of
individuals affected develop hemophilia through a spontaneous gene
mutation. This means that they were born to women with no history of
hemophilia in their families. In some extremely rare cases, hemophilia may
occur in women.
Severity
In severe hemophilia, the clotting factor
activity is less than 1 percent of the normal range. In addition to
prolonged bleeding due to injury or surgery, spontaneous internal bleeding
may occur in parts of the body such as joints, muscles, and sometimes, the
head. This can cause stroke or damage to internal organs such as, joints or
muscles. In moderate hemophilia, clotting activity is between 1 and 5
percent of the normal range. Spontaneous bleeding does not usually occur,
but minor injury may cause prolong bleeding. In mild hemophilia, clotting
activity is above 5 percent. Bleeding usually only occurs as a result of
trauma, surgery, or invasive dental procedures.
Treatment
Treatment consists of replacing
the deficient clotting factor by the intravenous infusion of highly purified
factor derived from human blood. Synthetic (recombinant) factors , though
expensive, have become the treatment of choice and the standard of care.
These products are produced in the
laboratory, without the use of human blood. In the 1970s, the advent of
concentrated clotting factor enabled people with hemophilia to infuse
themselves at home. Many patients take prophylactic doses of the factor
two to three days a week to prevent and protect their joints. Mild
hemophiliacs may respond to other medications such as DDAVP which is
available in an intravenous and nasal spray form.
Should Children with Hemophilia Participate in Sports and Recreational
Activities
Studies by orthopedists and physical
therapists have shown that the child with hemophilia whose joints are
supported by well-developed muscles is better able to withstand the trauma
of daily living. Furthermore, children with strong musculoskeletal systems
have fewer spontaneous bleeding episodes. The development of strong muscles
can best be accomplished through regular physical exercise, something that
should be started early and continued throughout adult life.
Despite the benefits of participation in
sports, there are some legitimate concerns among parents and school staff.
One concern is that the child may try an athletic activity and fail, either
because increased bleeding requires discontinuing the sport, or because they
lack the physical abilities to compete with their peers. To lessen the
likelihood of failure, a sport should be chosen that promises a relatively
good chance of success. Another concern is that playing a sport may
increase the frequency of bleeding episodes.
While it is obvious that some bleeding may
result from participation in a sport, health care providers and staff
members of camps for children with bleeding disorders report that generally
there are fewer bleeding episodes when children engage in physical
activities on a regular basis than when they are sedentary. When a
particular sport or activity is followed frequently by bleeding, that
activity should be reevaluated.
The National Hemophilia Foundation has
recommended that children with hemophilia participate in sports and
recreational activities. However, each sport activity should be evaluated
by assessing the risk benefit ratio for the patient. For the purpose of
evaluation, sports activities have been divided into three categories:
Category 1--
Recommended sports in which most individuals with hemophilia can participate
safely.
Category 2--Sports
in which the physical, social, and psychological benefits often outweigh the
risks.
Category 3—Sports
for which the risks outweigh the benefits. The nature of these activities
make them dangerous even for those without hemophilia.
Activity/Category
Golf/1
A sport that can be carried through adult life.
Swimming/1
It provides excellent musculoskeletal training.
Baseball/2
Helmets are encouraged. No base-sliding/pitching .
Basketball/2
Consult with M.D. , wear protective gear for joints.
Bowling/2
May cause excessive strain to the elbow.
Frisbee/2
Avoid being hit by a fast moving object.
Gymnastics/2
May be okay for those without musculoskeletal damage.
Horseback riding/2
A well-fitted helmet is needed. Major risks for everyone.
Ice Skating/2
Stress on the ankles. Avoid if arthropathy is present.
Jogging/Running/2
Trauma to the knees and ankles can lead to arthropathy .
Roller Skating/2
Frequent falls can lead to occasional fractures.
Skiing/2
Risk of severe injury.
Soccer/2
Risk of damage to the ankle and lower limbs.
Tennis/2
Stressful to the joints. Difficult if arthropathy is present.
Volleyball/2
Risky when highly competitive.
Water-skiing/2
Head trauma is a major concern.
Weightlifting/2
Using lighter weights is less risky.
Boxing/3
Not recommended.
Football/3
Not recommended. Risks to the head, neck and spine.
Hockey/3
Not recommended. High risk of severe traumatic injuries.
Motorcycling/3
Extremely dangerous for anyone.
Racquetball/3
Not recommended. Frequent injuries.
Skateboarding/3
Not recommended. Severe injuries to the ankles.
Wrestling/3
Not recommended.
Jonathan Jaques Children’s Cancer Center
provides state of the art comprehensive treatment to over 50 children with
hemophilia and other clotting disorders. We provide excellent education and
teaching, medical care, psychosocial support, and rehabilitation services
designed to meet the needs of patients and their families.
If additional information is needed, please
call Susan Shannon, RN, MSN, CPNP at (562) 933-8600.
Other resources:
National Hemophilia Foundation - You can
call and request information on specific topics for free, (800) 42-Handi.
Internet:
www.hemophiliagalaxy.com has
educational module on line.
www.hemosocal.com or (800) 371-4123. |
