Hemophilia is a rare, inherited bleeding disorder in which your blood doesn’t clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed internally, especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and, sometimes, be fatal.
People born with hemophilia have little to none of a protein needed for normal blood clotting. The protein is called a clotting factor. There are several types of clotting factors, and they work together with platelets to help the blood clot. Platelets are small pieces of blood cells that are formed in the bone marrow. They play a major role in blood clotting.
When blood vessels are injured, clotting factors help the platelets stick together to plug cuts and breaks at the site of the injury to stop the bleeding. Without clotting factors, normal blood clotting can’t take place. Sometimes people with hemophilia need injections of a clotting factor or factors to stop bleeding.
There are two main types of hemophilia. If you have hemophilia A, you have little to no clotting factor VIII (8). About 9 out of 10 people with hemophilia have type A. If you have hemophilia B, you’re missing or have low levels of clotting factor IX (9).
Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in the blood. About 7 out of 10 people who have hemophilia A have the severe form of the disorder. People who don’t have hemophilia have a factor VIII activity of 100 percent; people who have severe hemophilia A have a factor VIII activity of less than 1 percent.
In addition to being inherited, hemophilia also can be acquired, which means that you can develop it during your lifetime. It can develop if your body forms antibodies to the clotting factors in your bloodstream. The antibodies can block the clotting factors from working.
If you have inherited hemophilia, you’re born with the condition. It’s caused by a defect in one of the genes that determine how the body makes blood clotting factors VIII or IX. These genes are located on the X chromosomes.
Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.
A male who has the abnormal gene on his X chromosome will have hemophilia. A female must have the abnormal gene on both of her X chromosomes to have hemophilia; this is very rare.
A female is a “carrier” of hemophilia if she has the abnormal gene on one of her X chromosomes. Even though she doesn’t have the condition, she can pass the gene on to her children.
The diagram shows one example of how the hemophilia gene is inherited. In this example, the father doesn't have hemophillia (that is, he has two normal chromosomes—X and Y). The mother is a carrier of hemophilia (that is, she has one abnormal X chromosome and one normal X chromosome). Each daughter has a 50 percent chance of inheriting the abnormal gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the abnormal gene from his mother and having hemophilia. http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_causes.html
Signs and Symptoms
The extent of bleeding depends on the type and severity of the hemophilia. Children with mild hemophilia may not have symptoms until they have excessive bleeding from a dental procedure, an accident, or surgery. Males with severe hemophilia may bleed heavily after circumcision. Bleeding can be obvious (external bleeding) or hidden within the body (internal bleeding).
External Bleeding
Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
Nosebleeds for no obvious reason
Heavy bleeding from a minor cut
Bleeding from a cut that resumes after stopping for a short time
Internal Bleeding
Blood (from bleeding in the kidneys or bladder).
Blood in the stool (from bleeding in the intestines or stomach).
Bleeding in the Joints
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people with hemophilia. This can occur without obvious injury. At first, this bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
Swelling continues as bleeding continues, and eventually movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn’t quickly treated can permanently damage the joint.
Bleeding in the Brain
Internal bleeding in the brain is a very serious complication of hemophilia that can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:
Long-lasting painful headaches or neck pain or stiffness
Repeated vomiting
Changes in behavior or being very sleepy
Sudden weakness or clumsiness of the arms or legs or difficulty walking
Double vision
Convulsions or seizures
How is it diagnosed
If hemophilia is suspected or if you appear to have a bleeding problem, your doctor will take a personal and family medical history. This will reveal whether you or anyone in your family has a history of frequent and/or heavy bleeding and bruising. Your doctor also will do a physical exam and order blood tests.
Blood tests are used to determine:
How long it takes for your blood to clot
Whether your blood has low levels of any of the clotting factors
Whether one of the factors is completely missing from your blood
How is It Treated?
Treatment With Replacement Therapy
The main treatment for hemophilia is called replacement therapy—giving or replacing the clotting factor that’s too low or missing. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein.
Desmopressin
Desmopressin (DDAVP) is a man-made hormone used to treat people with mild to moderate hemophilia A. DDAVP can’t be used to treat hemophilia B or severe hemophilia A.
DDAVP stimulates the release of stored factor VIII and von Willebrand factor and increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which then can stay in the bloodstream longer.
DDAVP usually is given by injection or in a nasal spray. Because the effect of this medicine wears off when used often, it’s given only in certain situations. For example, your doctor may have you take this medicine prior to dental work or before playing certain sports to prevent or reduce bleeding.
Antifibrinolytic Medicines
Antifibrinolytic medicines (including tranexamic acid and aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep clots from breaking down. They’re most often used:
Before dental work
For treating bleeding from the mouth or nose
For mild intestinal bleeding
Gene TherapyResearchers are trying to develop ways to correct the defective genes that cause hemophilia to cure the disorder. Such gene therapy hasn’t yet developed to the point that it’s an accepted treatment. But researchers continue to test gene therapies for hemophilia in clinical trials.
*
HemophiliaWhat is it?
Hemophilia is a rare, inherited bleeding disorder in which your blood doesn’t clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed internally, especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and, sometimes, be fatal.
400 babies are born with the disorder. Hemophilia usually occurs only in males (with very rare exceptions).
http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html
What Causes Hemophilia?
The diagram shows one example of how the hemophilia gene is inherited. In this example, the father doesn't have hemophillia (that is, he has two normal chromosomes—X and Y). The mother is a carrier of hemophilia (that is, she has one abnormal X chromosome and one normal X chromosome). Each daughter has a 50 percent chance of inheriting the abnormal gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the abnormal gene from his mother and having hemophilia.
http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_causes.html
Signs and Symptoms
- The extent of bleeding depends on the type and severity of the hemophilia. Children with mild hemophilia may not have symptoms until they have excessive bleeding from a dental procedure, an accident, or surgery. Males with severe hemophilia may bleed heavily after circumcision. Bleeding can be obvious (external bleeding) or hidden within the body (internal bleeding).
External Bleeding- Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
- Nosebleeds for no obvious reason
- Heavy bleeding from a minor cut
- Bleeding from a cut that resumes after stopping for a short time
Internal Bleeding- Blood (from bleeding in the kidneys or bladder).
- Blood in the stool (from bleeding in the intestines or stomach).
Bleeding in the Joints- Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people with hemophilia. This can occur without obvious injury. At first, this bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
- Swelling continues as bleeding continues, and eventually movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn’t quickly treated can permanently damage the joint.
Bleeding in the BrainHow is it diagnosed
If hemophilia is suspected or if you appear to have a bleeding problem, your doctor will take a personal and family medical history. This will reveal whether you or anyone in your family has a history of frequent and/or heavy bleeding and bruising. Your doctor also will do a physical exam and order blood tests.
Blood tests are used to determine:
- How long it takes for your blood to clot
- Whether your blood has low levels of any of the clotting factors
- Whether one of the factors is completely missing from your blood
How is It Treated?- Desmopressin
Desmopressin (DDAVP) is a man-made hormone used to treat people with mild to moderate hemophilia A. DDAVP can’t be used to treat hemophilia B or severe hemophilia A.DDAVP stimulates the release of stored factor VIII and von Willebrand factor and increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which then can stay in the bloodstream longer.
DDAVP usually is given by injection or in a nasal spray. Because the effect of this medicine wears off when used often, it’s given only in certain situations. For example, your doctor may have you take this medicine prior to dental work or before playing certain sports to prevent or reduce bleeding.
- Antifibrinolytic Medicines
Antifibrinolytic medicines (including tranexamic acid and aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep clots from breaking down. They’re most often used:Before dental work
For treating bleeding from the mouth or nose
For mild intestinal bleeding
Other Treatments
*