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Hemophilia B
factor IX deficiency
Christmas disease
Definition of Hemophilia B
Hemophilia B is an inherited bleeding disorder affecting mostly men. This disease interferes with the blood's ability to clot.
What is going on in the body?
In hemophilia B the blood does not clot well. This is caused by a deficiency of a blood protein known as factor IX that helps form blood clots. Bleeding can be in any part of the body, either external or internal.
Most of the time the disease shows up early in life. This condition can be life threatening. Hemophilia B is very similar to hemophilia A but is less common.
What are the signs and symptoms of the disease?
Problems usually start in early childhood. Severe cases will cause:
- exceessive bleeding from dental procedures or surgeries
- bruising without injury
- nosebleeds
- joint bleeding leading to arthritis and deformities
- internal and bowel bleeding
- blood in the urine
In someone with mild hemophilia, excessive bleeding may occur only with injury or surgery.
What are the causes and risks of the disease?
People with this condition are usually males who inherit an abnormal X chromosome from the mother. Because women have 2 different X-chromosomes, they usually do not have the disease, but instead become genetic carriers who can pass the disease to a son or the carrier status to a daughter.
It is unclear why the genetic defect occurs in the first place. The exact nature of the genetic defect can vary, leading to a range of severity of the disease.
What can be done to prevent the disease?
Hemophilia B is a genetic disease. The disease cannot be prevented in a person who is born with this gene.
Genetic screening can tell individuals if they are carriers of the disease. Since hemophilia B is treatable, genetic counseling before or during pregnancy can be helpful to prepare couples with a family history of the disease for the possibility that a son may be born with the condition.
An unborn child can also be tested for hemophilia as early as the first trimester of pregnancy, with chorionic villi sampling or amniocentesis. These tests carry a small risk of causing a miscarriage.
How is the disease diagnosed?
Hemophilia B is diagnosed by measuring factor IX protein activity in the plasma. The severity of the disorder is closely linked to factor IX activity.
An individual with mild disease has more factor IX activity than one with severe disease. Other tests that may be used in diagnosis include the partial thromboplastin time (PTT), and prothrombin time (PT). These lab tests measure the clotting ability of the blood.
What are the long-term effects of the disease?
Long term effects of hemophilia B are usually only seen with moderate to severe disease. Possibilities include:
- anemia, or shortage of red blood cells
- bleeding into the brain, resulting in strokes and mental disabilities
- tissue damage from bleeding. This includes joint deformity, arthritis, and muscle stiffness.
- abnormal iron deposits in the liver and other organs, which may in turn cause the organs to malfunction
What are the risks to others?
Hemophilia is not a contagious disease. Someone with hemophilia or a family history of hemophilia may find genetic counseling helpful to assess the risk of passing on the abnormal gene to children or grandchildren.
What are the treatments for the disease?
An individual who develops bleeding problems needs to be treated regardless of the severity of the disease. Although fresh frozen plasma was used in the past, factor IX concentrate has been the standard of care for many years. This is purified, treated, concentrated human plasma that is high in factor IX activity.
An individual's dose of factor IX and the duration of treatment are based on several factors including the baseline factor IX activity level, total body weight, severity of bleeding, and site of bleeding. Someone with internal bleeding or central nervous system bleeding is treated more aggressively. Factor IX is given by slow, intravenous infusion. A person can do his own infusions at home.
If frequent infusions are required, a central line can be placed surgically. This catheter goes into one of the large veins through an entry port near the collarbone, and provides a painless way to give the factor IX. Serious hemorrhage may require treatment in the hospital.
Some persons have immune system problems that make hemophilia B worse. These persons may require treatment with medications to suppress the immune system.
Chronic joint deformity due to hemophilia is becoming less common. However, some individuals may require operations for joint problems. The most common sites for surgery include the weight bearing bones of the hips and knees.
What are the side effects of the treatments?
Too much infusion of factor IX can cause blood clots to form in the veins. Medication to suppress the immune system can make the person more susceptible to infections. Before current screening procedures, a factor IX transfusion carried a risk of HIV or hepatitis.
Currently, with present screening techniques for factor IX products, the risk of acquiring hepatitis and HIV is very low. Despite the fact that factor IX is produced from multiple blood donors, individuals who have received blood products only since 1985 have a much lower risk of acquiring hepatitis or HIV from factor IX products than did those treated before that.
What happens after treatment for the disease?
A person with hemophilia B is often tested after treatment to measure how effective the factor IX infusion has been. The site of bleeding may complicate this evaluation.
How is the disease monitored?
Periodic testing of factor IX levels may be used to help assess the response to treatment. It also can determine when another treatment is necessary. Monitoring may also require special x-ray tests, surgery, or other blood tests.
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