Hemophilia Quiz: Test Your IQ of This Blood Disorder

Explanation Hemophilia is a blood clotting disorder. A protein called clotting factor is needed for blood to clot properly, and people with hemophilia have little or no clotting factor.

A genetic mutation causes hemophilia. Genes are responsible for determining how the body makes blood clotting factors. A defect in the gene responsible for making blood clotting factors can cause hemophilia.

Most patients with hemophilia are male but in rare cases, females can also have hemophilia.

The gene responsible for making clotting factors is carried on the X chromosome. Females have two X chromosomes (XX) and males have one X and one Y chromosome (XY). Because males only get one X chromosome, they only have one copy of most of the genes on the X chromosome and will thus have hemophilia if the gene is defective on the X chromosome. When a female has hemophilia it means both X chromosomes are affected, or one chromosome is affected and the other is inactive or missing.

When a female has one affected X chromosome she is considered is a "carrier" of hemophilia, and can pass the affected chromosome on to her child. Female carriers may also have some symptoms of hemophilia.

There are 3 types of hemophilia.

1. Hemophilia A (Classic Hemophilia) - missing or low levels of clotting factor VIII. This accounts for about 80% of all cases of hemophilia.
2. Hemophilia B (Christmas Disease) - missing or low levels of clotting factor IX.
3. Acquired or sporadic – This type is rare. People with acquired or sporadic hemophilia are not born with the disorder but they develop it later in life and the body begins to produce antibodies that attack the clotting factors and prevent them from working normally.

Because the blood does not clot properly, bleeding is the main symptom of hemophilia. Bleeding in different parts of the body can cause different symptoms, including:

• Bruising
• Joint pain and swelling from bleeding in joints
• Heavy bleeding from minor cuts
• Blood in the urine or stool
• Nosebleeds that are frequent and difficult to stop
• Bleeding mouth and gums
• Bleeding after shots

Serious complication of hemophilia can result from internal bleeding in the brain. Even a simple bump on the head can cause bleeding in the brain in patients with hemophilia. About 10% of patients with severe hemophilia develop internal bleeding in the brain, and about 30% can die from this complication. Signs and symptoms of bleeding in the brain include:

• Vomiting
• Painful headaches
• Neck pain or stiffness
• Double vision
• Sleepiness
• Behavioral changes
• Weakness
• Loss of coordination
• Problems walking
• Seizures

Von Willebrand disease (VWD) is another type of clotting disorder, but it is not the same as hemophilia. Hemophilia is caused by a problem with clotting factors VIII or IX while VWD is caused by a problem with a different clotting factor called von Willebrand factor. Von Willebrand disease is more common than hemophilia. It affects up to 2% of the population, the symptoms tend to be milder, and it affects males and females equally.

The main treatment for hemophilia is to replace the missing clotting factor in a treatment called replacement therapy. Clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are infused into a vein. This treatment can be performed at home to help prevent bleeding episodes.

Other treatments for hemophilia include the manmade hormone desmopressin (DDAVP), which is used to treat people who have mild hemophilia A. It cannot be used to treat severe hemophilia A or hemophilia B of any form.

Antifibrinolytic medications may also be used along with replacement therapy. These medicines help prevent blood clots from breaking down. The main treatment for hemophilia is to replace the missing clotting factor in a treatment called replacement therapy. Clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are infused into a vein. This treatment can be performed at home to help prevent bleeding episodes.

Other treatments for hemophilia include the manmade hormone desmopressin (DDAVP), which is used to treat people who have mild hemophilia A. It cannot be used to treat severe hemophilia A or hemophilia B of any form.

Antifibrinolytic medications may also be used along with replacement therapy. These medicines help prevent blood clots from breaking down.

Gene therapy is not yet an accepted treatment for hemophilia but researchers are exploring this as a potential treatment for the future.

There is currently no cure for hemophilia.

In rare cases, people with hemophilia who have had liver transplants have been cured. Clotting factor is produced in the liver, and in these cases the new livers the patients received made normal amounts of clotting factors. Transplants are risky procedures that are only performed on patients whose lives are at risk due to impaired liver function, and they are not used to cure hemophilia.

The determining factor in the life expectancy of patients with hemophilia is receiving proper treatment. Patients who do not receive suitable treatment may die in childhood.

With adequate treatment life expectancy for people with hemophilia is only about 10 years less than the general population.