Hemophilia
What is Hemophilia?
Hemophilia occurs when a protein in the blood, which is needed for the process of forming a blood clot, is missing or reduced. This certain type of protein is called a clotting factor. When there is not enough of this clotting factor in a person’s body, they do not stop bleeding as quickly as they should. A person with hemophilia is at risk to bleed longer, not faster.
Hemophilia A occurs when there is a lack of the clotting protein called factor VIII (eight).
Hemophilia B occurs when there is a lack of the clotting protein called factor IX (nine).
Bleeding and Clotting
How does bleeding start and stop?
1. Bleeding starts when a capillary is injured and blood
leaks out.
2. The capillary tightens up to help slow the bleeding.
3. Then blood cells called platelets make a plug to
patch the hole.
4. Next, many clotting factors in plasma (part of the
blood) work together to form a clot over the plug.
This makes the plug stronger and stops the bleeding.
In hemophilia, the missing clotting factor makes it difficult to form a clot,
so bleeding continues longer than usual, not faster.
Levels of Hemophilia
The level of severity depends on the amount of clotting factor that is missing from a person’s blood. Normal clotting factor levels are 50-150%.
Mild: A factor level of 5-50%
Bleeding occurs only after a major injury, surgery or dental work
Moderate: A factor level of 1-5%
Bleeding occurs after the above and after smaller injuries
Severe: A factor level of Bleeding can occur after the above but can also occur for no clear
reason.
A person’s level of hemophilia does not change over time. The level of hemophilia is the same among family members. If your family has a mild level, then all members who have hemophilia will also have a mild level. However family members can have different patterns of bleeding.
Genetics
Hemophilia is passed down through families.
• When the father has hemophilia, none of the sons will have hemophilia but all
of the daughters will be carriers.
• Women who have the hemophilia gene are called carriers. They sometimes
show signs of hemophilia, and they can pass it on to their children. For each
child, there is a 50% chance that a son will have hemophilia and a 50%
chance that a daughter will be a carrier.
• Women can only have hemophilia if their father has hemophilia and their
mother is a carrier. This is very uncommon.
• Sometimes hemophilia can occur when there is no family history. This is
called a spontaneous mutation and occurs in about 30% of new cases of
hemophilia.
Types of bleeds and symptoms
Severe, life threatening bleeds –seek medical help right away
• Head – symptoms may include headache, neck ache, irritability, dizziness or
difficulty walking, sleepiness, sensitivity to light, nausea, vomiting, or loss of
consciousness.
• Eye- symptoms may include pain around the eye, swelling, change in skin
color around the eye, or change in vision.
• Neck and Throat – symptoms may include trouble swallowing or breathing,
different speech or crying, skin color changes around the neck, neck swelling
or tongue swelling.
• Abdominal/Gastrointestinal (GI) – symptoms may include blood in vomit or
vomit that looks like coffee grounds, black or tar colored stools, nausea or
abdominal pain.
Joint and muscle bleeds
• Bleeding occurs most often inside joints and muscles. When a bleed occurs
blood builds up in the joint or muscle space. This build up of blood causes
swelling and pain. It takes time for the body to reabsorb the blood. The
enzymes that are released to reabsorb the blood also can cause breakdown
of healthy tissue inside joints. Treating a joint or muscle bleed as soon as
possible will limit the amount of blood that builds up and decrease the
likelihood of long-term problems.
• Early signs- a hard hit to the area, a bubbling or tingling feeling inside the
joint, a warm feeling inside the muscle or joint, or a baby who is upset or
crying for no reason you can see (not because of hunger, thirst, or a need to
be held).
• Late signs- the skin over the muscle or joint feels warmer than other skin,
swelling, pain, stiffness, signs of poor blood flow surrounding the joint or
muscle such as cool, numb, or pale skin, or a young child who won’t
straighten or use an arm or leg.
Other bleeds
• Mouth and Nose
• Cuts and scrapes
Treatments
• Rest, ice, compression, elevation (RICE)
• Clotting factor concentrate
Factor VIII concentrate for hemophilia A, Factor IX concentrate for
hemophilia B
Given into a vein to stop or prevent bleeding
• Acetaminophen (Tylenol®) may be used for pain. Avoid aspirin products,
ibuprofen (Motrin®, Advil®), and naproxen( Aleve® )
• DDAVP (Desmopressin) can only be used for a mild factor VIII deficiency.
It can be given either by IV or inhaled through the nose
• Antifibrinolytic medications (Amicar, Lysteda) are used to treat mouth and
nose bleeding. They are most often taken by mouth and are commonly used
before and after dental work.
• First Aid for minor cuts, bruises and scrapes
Prophylaxis
Prophylaxis with Factor Concentrate can prevent joint damage and decrease the frequency of bleeding in children and adults with severe hemophilia. Prophylaxis is done on a regular schedule, often 3 times a week or every other day, and is usually done at home. When prophylaxis begins at a young age children will often have a port placed in the chest until the veins become easier to access.
Inhibitors
Inhibitors occur when the body’s immune system reacts to the clotting factor that is infused. The immune system sees the factor as a foreign substance and forms inhibitors, or antibodies, to destroy the factor. Most inhibitors develop in the first 75 exposures to clotting factor, with the greatest risk occurring in the first 10-20 treatments. Inhibitors are most common in severe Hemophilia A, about 25-30% of children with Hemophilia A develop inhibitors. Only about 1-6% of people with Hemophilia B develop inhibitors. The most common sign of an inhibitor is bleeding that is uncontrolled with typical doses of factor. Inhibitors are diagnosed by doing a simple blood draw. They are most often treated with high dose factor concentrate or bypassing agents such as Factor VIIa or Activated Prothrombin complex concentrates (APCC).
Physical activity
Everyone with a bleeding disorder should have a good level of physical activity. Being active improves joint and muscle function and can have a positive effect on psychological and emotional well-being. The amount of activity that someone with a bleeding disorder takes part in will depend on their own skill level. Sports such as swimming, dancing and walking are encouraged. Contact sports with a high risk of injury, including football, hockey and boxing, are strongly discouraged. Proper training in any activity is important for safety. This includes learning the rules and using the correct gear such as helmets, pads, and guards.
UWHC Comprehensive Program for Bleeding Disorders: 866-737-6707.
The information provided should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Any duplication or distribution of the information contained herein is strictly prohibited.
Last Updated: 02/27/2013
Copyright © 02/27/2013 University of Wisconsin Hospitals and Clinics Authority. All rights reserved. Produced by the Department of Nursing. HF#6535
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