Hemophilia
What is Hemophilia?
Hemophilia is a genetic disorder that prevents your blood from clotting normally. People with hemophilia have low levels of specific clotting factors, which are proteins that help stop bleeding. When you get a cut or injury, your blood takes much longer to form a clot.
There are two main types of hemophilia. Hemophilia A is the most common and involves low levels of clotting factor VIII. Hemophilia B involves low levels of clotting factor IX. Both types are inherited through genes and primarily affect males, though females can be carriers and sometimes have mild symptoms.
The severity of hemophilia varies from person to person. Mild hemophilia may only cause problems during surgery or major injuries. Moderate to severe hemophilia can lead to spontaneous bleeding episodes, especially into joints and muscles. Early diagnosis and proper management help people with hemophilia live active, healthy lives.
Symptoms
- Prolonged bleeding from cuts, injuries, or dental work
- Large or deep bruises that appear easily
- Unexplained nosebleeds that are difficult to stop
- Blood in urine or stool
- Joint pain, swelling, and stiffness from internal bleeding
- Excessive bleeding after surgery or vaccinations
- Frequent headaches or changes in behavior, which may indicate brain bleeding
People with mild hemophilia may not notice symptoms until they have surgery or a major injury. Severe hemophilia often shows symptoms in infancy when babies start crawling or walking.
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Causes and risk factors
Hemophilia is caused by genetic mutations that affect the production of clotting factors. The genes responsible for making clotting factors VIII and IX are located on the X chromosome. Because males have only one X chromosome, a single mutated gene causes hemophilia. Females have two X chromosomes, so they typically need mutations on both to have the disorder, making them mostly carriers.
About two thirds of people with hemophilia inherit the condition from their parents. The remaining one third develop it from spontaneous genetic mutations with no family history. Risk factors include having a family history of hemophilia or being male. There are no lifestyle or environmental factors that cause hemophilia, as it is purely genetic.
How it's diagnosed
Hemophilia is diagnosed through blood tests that measure clotting factor levels and how long it takes blood to clot. The Partial Thromboplastin Time test, or PTT, measures how quickly your blood forms a clot. A prolonged PTT can indicate hemophilia. The PT/INR test may also show abnormal results in some cases. Once screening tests suggest a problem, specific clotting factor tests confirm the diagnosis and determine which type of hemophilia you have.
Rite Aid offers PTT and PT/INR testing as add-ons to our flagship panel at Quest Diagnostics locations nationwide. If you have a family history of hemophilia or experience unusual bleeding, these tests can provide important screening information. Your doctor will use these results along with your symptoms and family history to make a diagnosis.
Treatment options
- Replacement therapy with clotting factor concentrates, given through an IV to replace missing factors
- Desmopressin medication for mild hemophilia A to stimulate release of stored clotting factor
- Antifibrinolytic medicines to help prevent clots from breaking down
- Regular physical activity to strengthen muscles and protect joints, avoiding contact sports
- Avoiding aspirin and anti-inflammatory drugs that interfere with blood clotting
- Maintaining healthy weight to reduce stress on joints
- Wearing medical alert identification to inform healthcare providers in emergencies
- Working with a hematologist who specializes in blood disorders for ongoing care
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- Simple blood draw at your nearest lab
- Results in days, not weeks
- Share results with your doctor
Frequently asked questions
Hemophilia A is caused by low levels of clotting factor VIII, while hemophilia B involves low levels of clotting factor IX. Hemophilia A is about four times more common than hemophilia B. Both types cause similar symptoms and are treated with replacement therapy, but they require different clotting factor concentrates.
Women are usually carriers who pass the gene to their children but do not have symptoms themselves. However, some female carriers experience mild bleeding symptoms due to lower than normal clotting factor levels. In rare cases, women can have hemophilia if they inherit the gene from both parents or have certain chromosomal abnormalities.
Hemophilia is inherited through the X chromosome in a recessive pattern. A mother who carries the hemophilia gene has a 50% chance of passing it to each child. Sons who inherit the gene will have hemophilia, while daughters who inherit it become carriers. Fathers with hemophilia will pass the gene to all daughters but no sons.
The Partial Thromboplastin Time test, or PTT, is a screening test that measures how long blood takes to clot. A prolonged PTT suggests a clotting problem like hemophilia. Doctors then order specific clotting factor assays to measure levels of factor VIII or IX and confirm the diagnosis and type of hemophilia.
With proper treatment and care, most people with hemophilia live normal lifespans. The greatest risks are internal bleeding, especially in the brain or major organs, which can be life threatening if not treated quickly. Regular replacement therapy and prompt treatment of bleeding episodes significantly reduce these risks.
There is currently no cure for hemophilia, but treatment has advanced significantly. Replacement therapy effectively manages the condition by providing the missing clotting factors. Gene therapy is being studied and shows promise for potentially curing hemophilia in the future. With treatment, people with hemophilia can live active, healthy lives.
People with hemophilia should avoid contact sports like football, hockey, and boxing that carry high risk of injury. They should also avoid activities with high fall risk or impact on joints. Safe activities include swimming, walking, cycling, and golf. Always consult your hematologist before starting new physical activities.
Treatment frequency depends on severity and the approach used. Some people receive prophylactic treatment two to three times per week to prevent bleeding episodes. Others use on-demand treatment only when bleeding occurs. People with mild hemophilia may only need treatment before surgeries or dental procedures.
Repeated bleeding into joints can cause chronic pain, arthritis, and joint damage that limits movement. Internal bleeding can damage organs and muscles. Brain bleeds can cause seizures, paralysis, or death. With proper treatment, these complications can largely be prevented or minimized.
While diet cannot replace medical treatment, maintaining a healthy weight reduces stress on joints prone to bleeding. Regular low-impact exercise strengthens muscles that support joints. Avoiding alcohol and certain medications like aspirin that affect clotting is important. A balanced diet rich in nutrients supports overall health and healing.