The World Federation of Hemophilia (WFH) is an international non-profit
organization dedicated to improving the lives of people with hemophilia (also spelled haemophilia) and other genetic bleeding disorders. It
educates hemophiliacs and lobbies for improved medical treatment. 75% of people
in the world with bleeding disorders do not know it and do not receive care.
World Hemophilia Day is an international observance held annually on April 17 by the WFH. It is an awareness day for hemophilia and other bleeding disorders, which also
serves to raise funds and attract volunteers for the WFH. It was started in 1989;
April 17 was chosen in honor of Frank Schnabel's birthday.
What is haemophilia??
Let’s take a moment to discuss crucial facts that you should
know about hemophilia.
When we bleed, the body normally pools blood
cells together to form a clot to stop the bleeding. This process is brought
about by certain blood particles (platelets and plasma
proteins). Hemophilia occurs when a person has a deficiency in one
of these clotting factors.
Hemophilia is classified by the absence or insufficiency of some
clotting factors:
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Hemophilia A, the most common type, is caused by
insufficient clotting factor VIII.
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Hemophilia B, the second most common type, is
caused by insufficient clotting factor IX.
§
Hemophilia C, in which signs and symptoms are often
mild, is caused by insufficient clotting factor XI.
Hemophilia occurs approximately 1 in every
5,000 male births. Currently, about 20,000 males in the US are
living with the disorder. Hemophilia A is about four times as common as Hemophilia B,
and about half of those affected have the severe form. Hemophilia affects
people from all racial and ethnic groups. Approximately 30% of people
with hemophilia show no family history while the remaining 70% cases are inherited .This condition
also prevails in India, with more than 5000 men in tamil nadu . haemophilia
centers for treating these patients. Nearly 500 to 1000 patients have been
recognized in Chennai and there are still more unaware the symptoms of his
disorder
How is Hemophilia
inherited?
Every human being has two sex chromosomes, one from each parent.
A female inherits an X chromosome from her mother and an X from her father. A
male inherits an X from his mother and a Y from his father.
Hemophilia inheritance depends on the type of hemophilia:
Hemophilia A or B. The gene that causes
them is located on the X chromosome, so it can’t be passed from father to son.
Hemophilia A or B almost always occurs in boys and is passed from mother to son
through one of the mother’s genes. Haemophilia C. This disorder can be passed on to children by either
parent and can occur in girls and boys.
What are the
symptoms?
- Mildly reduced clotting factors: you
may bleed only after surgery or trauma.
- Severe deficiency: you may experience
spontaneous bleeding which presents as follows:
- Unexplained and excessive bleeding
from cuts or injuries, or after surgery or dental work
- Many large or deep bruises
- Unusual bleeding after vaccinations
- Pain, swelling or tightness in joints
and muscles. This can cause limbs to swell, which may press on nerves and lead
to numbness or pain. If left untreated, frequent internal bleeding may cause arthritis
or destruction of the joint.
- Blood in urine or stool
- Nosebleeds without a known cause
-
In infants, unexplained irritability
When to seek
consultation?
Prolonged bleeding after circumcision may be the first
indication in a baby boy. Those who aren’t circumcised, easy bruising when the
child becomes more mobile may lead to the diagnosis (generally 2 years of age).
If your child bruises easily, seek help. If your child has heavy
bleeding that can’t be stopped after an injury, seek emergency medical care.
Questions the
doctor might ask
- What are your symptoms, and when did
you first notice them?
- Have you noticed any unusual or heavy
bleeding, such as nosebleeds or prolonged bleeding from a cut or vaccination?
- Have you noticed blood in your urine
or stool?
- Have you undergone any surgeries,
and, if so, did the surgeon feel there was excessive bleeding?
- Have you noticed heavy bruises?
- Have you complained of pain or warmth
around joints?
- Has anyone in your family been
diagnosed with a bleeding disorder?
- Are you planning to have more
children?
How is hemophilia
treated?
While there’s no cure for hemophilia, most people with the
disease can lead fairly normal lives. Therapies to stop bleeding depend on the
type of hemophilia:
- Mild Hemophilia A. Hormone desmopressin (DDAVP) can
stimulate a release of more clotting factor to stop bleeding.
- Moderate to severe Hemophilia A or
Hemophilia B. Bleeding may stop
only after an infusion of recombinant clotting factor or donated human blood.
Repeated infusions may be needed if internal bleeding is severe.
- Hemophilia C. Plasma infusions are needed to stop
bleeding episodes.
- First aid for minor cuts. Applying pressure and a bandage will
generally take care of the bleeding. For small areas of bleeding beneath the
skin, use an ice pack.
- Although blood products are screened,
it is still possible for people who rely on them to contract diseases. If you
have hemophilia, consider receiving immunization against Hepatitis A and B.
What precautions
you can take?
- Regular exercise: Swimming, biking and walking can
build up muscles while protecting joints. Contact sports should be avoided.
- Avoid pain medications: Drugs that reduce the platelet levels
further include aspirin and ibuprofen (Advil, Motrin, etc). Instead, use safer
alternatives like acetaminophen (Tylenol, etc)
-
Practice good oral care: This will prevent tooth extraction,
which can lead to excessive bleeding.
-
For children: Kneepads, elbow pads, helmets, safety belts and soft furniture corners
all may help prevent injuries from unpredictable events.