Frequently Asked Questions

Hemophilia

What is Hemophilia?
What is Hemophilia A?
How do you get Hemophilia A?
How common is Hemophilia A?
How is Hemophilia A treated?
What is Hemophilia B?
How do you get Hemophilia B?
How common is Hemophilia B?
How is Hemophilia B treated?
What is Von Willebrand's disease?
How common is Von Willebrand's dieaese?
How do you treat Von Willebrand's disease?
Where can I obtain services for Hemophilia in Missouri?
What services does DHSS provide?

What is Hemophilia?
Hemophilia is a hereditary bleeding disorder of specific blood clotting factors.

What is Hemophilia A?
Hemophilia A is a hereditary blood coagulation (clotting) disorder. It is caused by a deficient activity of plasma protein factor VIII, which affects the clotting property of blood.

How do you get Hemophilia A?
The disorder is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome. Females carry two copies of the X chromosome, and therefore if the factor VIII gene on one chromosome is defective, the gene on the other chromosome can compensate. Males, however, carry only one X chromosome, so if the factor VIII gene on that chromosome is defective, they will have the disease. Females with one defective factor VIII gene are carriers of this trait. Fifty percent of the male offspring of female carriers have the disease and 50% of their female offspring are carriers. All female children of a male Hemophiliac, are carriers of the trait.

The severity of symptoms can vary with this disease, and the severe forms become apparent early on. Bleeding is the hallmark of the disease and sometimes, though not always, occurs if an infant is circumcised. Additional bleeding manifestations make their appearance when the infant becomes mobile. Mild cases may go unnoticed until later in life when they occur in response to surgery or trauma. Internal bleeding may happen anywhere, and bleeding into joints is common. Risk factors are a family history of bleeding and being male.

How common is Hemophilia A?
The incidence of Hemophilia A is 1 out of 5,000 men.

Symptoms include b ruising, sponteanous bleeding, bleeding into joints and associated pain and swelling. Gastrointestinal tract, urinary tract hemorrhage, b lood in the urine or stool and prolonged bleeding from cuts, tooth extraction, and surgery.

How is Hemophilia A treated?
Standard treatment is infusion of factor VIII concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient.

Mild Hemophilia may be treated with infusion of cryoprecipitate or desmopressin (DDAVP), which causes release of factor VIII that is stored within the body on the lining of blood vessels.

To prevent a bleeding crisis, people with Hemophilia and their families can be taught to administer factor VIII concentrates at home at the first signs of bleeding. People with severe forms of the disease may need regular prophylactic infusions.

Depending on the severity of the disease, DDAVP or factor VIII concentrate may be given prior to dental extractions and surgery to prevent bleeding.

Immunization with Hepatitis B vaccine is necessary because of the increased risk of exposure to hepatitis due to frequent infusions of blood products. Patients who develop an inhibitor to factor VIII may require treatment with other clotting factors such as factor VIIa, which can aide clotting even in the absence of factor VIII.

With treatment, the outcome is good. Most people with Hemophilia are able to lead relatively normal lives. A small percentage of people with Hemophilia will develop inhibitors of factor VIII, and may die from loss of blood.

Chronic joint deformities, caused by recurrent bleeding into the joint, may be managed by an orthopedic specialist. These problems sometimes require joint replacement. Recurrent transfusions may increase the risk of contracting HIV and hepatitis, especially prior to 1985 when blood screening procedures were improved for detecting the HIV virus. However, new heat processing treatment makes factor VIII material free of the HIV virus and thus safe for use.

What is Hemophilia B?
Alternative names:   Christmas disease; Factor IX Hemophilia

Hemophilia B is a hereditary blood coagulation disorder. It is caused by a deficiency of a blood plasma protein called factor IX that affects the clotting property of blood.

Hemophilia is a hereditary bleeding disorder of specific blood clotting factors. There are several types of Hemophilia, including Hemophilia A and B. Hemophilia A is 7 times more common than Hemophilia B.

How do you get Hemophilia B?
The disorder is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome. Females carry two copies of the X chromosome, so if the factor IX gene on one chromosome is defective, the other can compensate. Males, however, carry only one X chromosome, so if the factor IX gene on that chromosome is defective, they have the disease.

Females with one defective factor IX gene are carriers of this trait. Fifty percent of the male offspring of female carriers will have the disease, and 50% of their female offspring will be carriers. All female children of a male Hemophiliac will be carriers of the trait.

The severity of symptoms can vary with this disease, and the severe forms become apparent early on. Bleeding is the hallmark of the disease and sometimes, though not always, occurs if an infant is circumcised. Additional bleeding manifestations make their appearance when the infant becomes mobile. Mild cases may go unnoticed until later in life, when they occur in response to surgery or trauma. Internal bleeding may occur anywhere and bleeding into joints is common. Risk factors are a family history of bleeding and being male.

How common is Hemophilia B?
Hemophilia B occurs in about 1 out of 32,000 men.

Symptoms include nose bleeds, bruising, sponteanous bleeding, bleeding into joints and associated pain and swelling. Gastrointestinal tract, urinary tract hemorrhage, b lood in the urine or stool and prolonged bleeding from cuts, tooth extraction, and surgery.

How is Hemophilia B treated?
Standard treatment is infusion of factor IX concentrates to replace the defective clotting factor. The amount infused depends upon the severity of bleeding, the site of the bleeding, and the size of the patient. Hepatitis B vaccine is recommended for individuals with Hemophilia B because they are at increased risk of developing hepatitis, due to exposure to blood products.

To prevent a bleeding crisis, people with Hemophilia and their families can be taught to administer factor IX concentrates at home at the first signs of bleeding. People with severe forms of the disease may need regular prophylactic infusions.

Recurrent transfusions may increase the risk of contracting HIV and hepatitis, especially prior to 1985 when blood screening procedures were improved for detecting the HIV virus. However, new heat processing treatment makes factor VIII material free of the HIV virus and thus safe for use.

What is Von Willebrand's disease?
Von Willebrand's disease is a hereditary bleeding disorder caused by a deficiency of Von Willebrand factor. Von Willebrand factor helps platelets to stick to the blood vessel wall and to each other, which is necessary for normal blood clotting.

How common is Von Willebrand's dieaese?
Von Willebrand's disease is the most common hereditary bleeding disorder. It affects both sexes approximately equally. Most cases are mild, and bleeding may occur after a surgical procedure or tooth extraction. The condition is worsened by the use of aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs). Bleeding may decrease during pregnancy.

The disease is very common, affecting at least 1% of the population. There are no racial or ethnic associations with this disorder. A family history of a bleeding disorder is the primary risk factor.

Symptoms include nose bleeds, bleeding of the gums, abnormal menstrual bleeding, bruising, and skin rash.

How do you treat Von Willebrand's disease?
For most patients, bleeding is mild under most circumstances. However, if trauma occurs or surgery is scheduled, cryoprecipitate or desmopressin acetate (DDAVP) or Stimate can be given to raise the levels of Von Willebrand factor, which will decrease the tendency toward bleeding. Fresh plasma or certain factor VIII preparations may also be used to decrease bleeding.

Some subtypes of Von Willebrand's disease do not respond to DDAVP. Because of this, the subtype should be determined prior to reliance on DDAVP for a significant bleeding challenge. In addition, a trial of DDAVP can be done prior to surgery to test whether Von Willebrand factor levels increase. Patients with this disorder should not take nonsteroidal anti-inflammatory drugs (NSAIDs) such as aspirin or ibuprofen without consulting their health care provider.

Where can I obtain services for Hemophilia in Missouri?
See the list of Treatment Centers.

What services does DHSS provide?
See the Hemophilia Fact Sheet

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