Overview
Hemophilia is a lifelong condition that affects the body’s ability to form stable blood clots. This means bleeding may last longer than usual, and some bleeding can happen inside the body where it is not easy to see. The main forms are hemophilia A, caused by low factor VIII, and hemophilia B, caused by low factor IX.
Key Symptoms
Symptoms can include easy bruising, frequent nosebleeds, prolonged bleeding after cuts, dental work, surgery, or injections, and bleeding into joints or muscles. Joint bleeding may cause pain, warmth, swelling, or reduced movement, especially in knees, ankles, and elbows. Severe hemophilia can also cause spontaneous bleeding without an obvious injury.
Causes and Risk Factors
Most hemophilia is inherited through changes in genes linked to clotting factors. A family history of hemophilia increases the chance of having it, although some people have no known family history because a new gene change can occur. Rarely, hemophilia can be acquired later in life when the immune system attacks clotting factors.
Who Is Affected
Because the common inherited forms are usually linked to the X chromosome, males are more often affected, while females may be carriers and can sometimes also have bleeding symptoms. Hemophilia occurs in many countries and ethnic groups around the world. It may be recognized in infancy, childhood, or later, depending on severity.
Diagnosis and Tests
Diagnosis usually involves a medical history, family history, physical examination, and blood tests that measure how well blood clots. Specific tests can measure factor VIII or factor IX levels and help identify the type and severity. Genetic testing may also be used for confirmation, family planning, or carrier testing.
Treatment Categories
Treatment often includes replacing the missing clotting factor or using other medicines that help prevent or control bleeding, depending on the type of hemophilia. Some people receive regular preventive treatment, while others are treated when bleeding happens. Care may also include joint care, physical therapy, and planning ahead for dental work, surgery, travel, and emergencies.
Living With It
People with hemophilia often benefit from ongoing follow-up with a care team experienced in bleeding disorders. Learning to recognize early signs of bleeding and having a treatment plan can help reduce complications. Family members, schools, workplaces, and caregivers may also need information about what to do if bleeding occurs.
Diet and Lifestyle
A balanced diet and maintaining a healthy body weight can help reduce strain on joints, especially if joint bleeding has occurred. Regular physical activity may support strength and joint function, but activities with a high risk of injury may need extra discussion with a healthcare professional. People with hemophilia should tell healthcare providers and dentists about their condition before procedures or new medicines.
When It May Be an Emergency
Emergency care is important for head injury, severe headache, vomiting, confusion, weakness, trouble speaking, or other possible signs of bleeding in the brain. Urgent care is also needed for severe pain or swelling in a joint or muscle, heavy bleeding that does not stop, trouble breathing, neck swelling, or blood in vomit, stool, or urine. Internal bleeding may not always be obvious, so sudden unusual symptoms should be taken seriously.
Questions to Ask a Healthcare Professional
Helpful questions include: What type of hemophilia is present, and how severe is it? What signs of internal bleeding should I watch for, and what should I do if they happen? Ask about treatment options, activity planning, dental or surgical precautions, family testing, pregnancy planning, and whether an emergency action plan is needed.