Hemophilia A

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at February 19, 2016
StartDiseasesHemophilia A

Hemophilia A is a bleeding disorder that is caused by a lack of blood clotting factor VIII. Those who have it experience unexplained bleeding and excessive bleeding. Hemophilia A is also called classic hemophilia and factor VIII deficiency and is the most common form of hemophilia, affecting nearly 400,000 people worldwide.

Contents

Definition & Facts

Hemophilia A is a rare genetic disorder that does not allow blood to clot normally. This is because the blood lacks correct amounts of clotting factor VIII. A person who has hemophilia A will bleed for longer periods of time after an injury than a person who does not have it, and a person with hemophilia A may suffer from hemorrhage into the joints and muscles.

This disorder affects people from all ethnicities, and it affects infants, children, and adults alike. It is most common in men. The sons of women who are genetic carriers of the hemophilia gene will have a 50% of inheriting hemophilia. The daughters of women who are genetic carriers will have a 50% of carrying the gene while the daughters of men who have hemophilia have a 100% of carrying the hemophilia gene.

Symptoms & Complaints

Bleeding is the defining symptom of this disease. People with mild cases of hemophilia A might not notice symptoms until later in life. The first symptoms that usually arise are internal bleeding and difficulty stopping bleeding after trauma or surgery. In male infants, it can be discovered after circumcision. More bleeding symptoms can arise when infants begin to become more active and are crawling and walking. General symptoms include:

Causes

Hemophilia A is either hereditary or caused by spontaneous genetic mutations. Genetic mutations involve genes that are needed for the blood clotting process. In a normal clotting process, when a person bleeds, the body clots to stop the bleeding using platelets and plasma proteins.

Hemophilia occurs when one has a deficiency in one of these clotting factors. Hemophilia A is lacking blood clotting factor VIII. Once blood clotting is hindered by this mutation, the individual begins to notice the bleeding symptoms mentioned above.

Diagnosis & Tests

When bleeding symptoms arise in either children or adults, a doctor’s appointment should be scheduled. The doctor will ask questions about personal medical history and family medical history. This will help determine if the disease was passed down to the patient. Many people who have hemophilia A do not have people in their family that have the disease.

The next step will be a physical examination combined with blood tests to diagnose hemophilia. Blood tests are used to determine the length of time it takes the patient’s blood to clot, to see if the patient’s blood has low levels of clotting factor VIII, and whether or not clotting factors are missing from the blood entirely.

The doctor will also use the blood tests to determine the severity of the patient’s hemophilia. It will be ranked mild if the blood still contains 5-40 percent of its clotting factor, moderate if the blood still contains 1-5 percent of its clotting factor, and severe if it contains less than one percent of its clotting factor. Specific tests to diagnose hemophilia A are:

Treatment & Therapy

There is no cure for hemophilia A, but those who have it usually lead fairly normal lives. Treatment for hemophilia A includes replacing the missing clotting factor through factor VIII replacement therapy. The amount each patient receives depends on how severely they bleed, where they bleed from, and their weight and height.

Mild hemophilia A can also be treated with a hormone called desmopressin (DDAVP). Injections of DDAVP allow the body to release blood clotting factor VIII that is naturally stored in the lining of the body’s blood vessels. For emergency situations, people with hemophilia and their families can be taught to administer factor VIII at home. That way, bleeding can be slowed down quickly after it begins.

Those with moderate and severe forms of hemophilia A may require regular preventive treatment. Sometimes bleeding will not stop until the patient receives a recombinant clotting factor or a clotting factor taken from donated human blood. People with severe hemophilia A may also need to take precautions before having dental work or other surgery to prevent bleeding. They should have a DDAVP treatment or a factor VIII concentrate before medical procedures.

For pain, hemophiliacs can take over the counter pain medications that are not NSAIDs or aspirin because they hinder blood clotting. There are also topical medications to help control bleeding. In some cases, joint replacement surgery is needed. The other surgery involved with hemophilia is the removal of partially clotted blood under the skin called an expanding hematoma.

Prevention & Prophylaxis

There is no way to prevent developing hemophilia A. It is either passed down genetically or a mutation causes it. It can’t be cured. There are some precautions that those with hemophilia should take including:

  • Be careful with non-prescription, over-the-counter medications. Do not take aspirin or NSAID's (naproxen, ibuprofen, acetaminophen)
  • Blood clotting factor VIII should be taken as therapy on a regular basis to be proactive against bleeding and joint damage.
  • Exercise and stay active but with caution.
  • Women who are hemophilia carriers and give birth to male children should not have their son(s) circumcised without testing the infant for hemophilia first.
  • Learn to recognize bleeding symptoms.
  • Infants and adults should be vaccinated for hepatitis B.
  • Hemophiliacs should always carry identification that informs others they hav hemophilia.