Hemophilia – Diagnosis and Treatment
Diagnosis
Doctors diagnose hemophilia through several steps to check blood clotting. Blood tests like the complete blood count (CBC) and prothrombin time (PT) examine how well the blood clots.
The activated partial thromboplastin time (aPTT) also serves as a common screening test.
Doctors use clotting factor tests (factor assays) to determine if key proteins, such as factor VIII (linked to hemophilia A, or classic hemophilia) and factor IX (connected to hemophilia B or Christmas disease), are missing or at low levels.
For patients with a family history of hemophilia, genetic testing can identify carriers or assess the risk of passing the disorder to children. Testing during pregnancy can check if the fetus is affected, but it has some risks.
Symptoms often leading to diagnosis:
- Unusual or prolonged bleeding
- Easy bruising
- Joint or muscle bleeds after injuries or surgeries
If a specific clotting factor (like factor XI) is also low, doctors may order further testing for other rare bleeding disorders.
Treatment
People with hemophilia often use different types of treatments to manage bleeding and improve their quality of life.
The most common method is factor replacement therapy, in which healthcare providers give missing or low clotting factors through a vein. This treatment uses clotting factor concentrates made from donated plasma or recombinant clotting factors produced in labs.
Some individuals choose continuous or regular infusions at home to help prevent bleeds, while others receive treatment only when bleeding starts.
| Type of Replacement | Description |
|---|---|
| Plasma-derived | Made from donated human blood |
| Recombinant | Made in a laboratory, not from blood |
For mild cases, doctors sometimes prescribe a synthetic vasopressin analog to encourage the body to release more of its own clotting factor. This medication can be given as an injection or nasal spray.
A newer option for some individuals is a bispecific monoclonal antibody, which does not contain actual clotting factors but helps prevent bleeding—especially in people with hemophilia A who have developed an inhibitor that blocks standard clotting factor treatments.
Other therapies to support clotting include:
- Antifibrinolytic Agents: Help preserve clots and prevent them from breaking down too quickly.
- Fibrin Sealants: Applied directly to wound sites to promote clotting, useful during dental work or minor injuries.
- Physical Therapy: Supports recovery when bleeding affects the joints.
- Surgical Procedures: Occasionally performed in rare or severe cases to manage bleeding complications.
- Basic First Aid Measures: Applying pressure and bandages to minor bleeds; using ice or ice pops for mouth or skin bleeds to slow bleeding.
Some individuals may also consider gene therapy as a future treatment option. Many receive care and support from specialized bleeding disorder clinics and ilia treatment centers for regular care and monitoring.
Lifestyle and everyday care tips
People with hemophilia can lower their risk of bleeding episodes and keep their joints healthy by making some changes at home and in daily routines.
Physical activity helps keep muscles strong and supports the joints. Swimming, biking, and walking are good choices for exercise. Avoiding contact sports like football and wrestling can help prevent injuries or joint bleeds.
Medicine choices are important. Some pain relievers like aspirin and ibuprofen can cause more bleeding. Acetaminophen is safer for relieving mild pain.
People should avoid blood-thinning medicines unless a doctor directs otherwise, as these can make bleeding last longer.
Keeping teeth and gums healthy helps prevent problems that could lead to excessive or prolonged bleeding during dental procedures. Brushing teeth twice a day and daily flossing are helpful habits.
People with hemophilia should keep up with all recommended vaccines. For shots, using a small needle and pressing on the spot for a few minutes after can help lower the risk of getting a bruise or hematoma.
Safety at home and during activities is important, especially for children who may have mild hemophilia or risk of spontaneous bleeding. Using helmets, elbow, and knee pads, plus removing furniture with sharp corners, can help prevent injuries.
| Tip | Why It Matters |
|---|---|
| Choose safe exercises | Supports joint health, prevents injury |
| Avoid certain pain medicines | Lowers chance of bleeding |
| Practice dental care | Prevents mouth bleeds/complications |
| Stay up-to-date with vaccines | Reduces infection and bleeding risk |
| Use protective gear | Protects against falls and trauma |
Handling Daily Life and Finding Help
Coping with hemophilia, whether it is moderate or severe, can be stressful for families.
Wearing a medical alert bracelet helps doctors and nurses quickly understand the type of hemophilia and which clotting factor is needed, especially if there is a life-threatening bleed.
A social worker or counselor can work with families and children to build a plan that keeps them safe but also active, reducing the chance of joint destruction from lack of movement.
Getting Ready for Your Medical Visit
Steps You Can Take Before the Appointment
To make the most of the visit with a hematologist or healthcare provider, come prepared. Consider these tips:
- List all noticed symptoms and the time they started.
- Gather key health details, like other medical problems or if anyone in the family has had bleeding disorders, especially those linked to the X chromosome or abnormal gene patterns.
- Write down all medicines being taken, including over-the-counter drugs, vitamins, and supplements with their amounts.
Having this information ready gives the doctor a clearer picture and can help speed up understanding if hemophilia, von Willebrand disease, or an inherited issue is present.
Good Topics to Discuss With the Doctor
Ask direct questions, such as:
| Topic | Example Question |
|---|---|
| Cause | What could be causing these symptoms? |
| Diagnosis | What tests are needed, and do they require special steps? |
| Treatment | What are the treatment options? |
| Activities | Are there any activities to avoid? |
| Inheritance | Should the family see a genetic counselor to discuss possible female carrier risks or inheritance patterns? |
Bring up any other concerns during the conversation.
Things Your Doctor Will Likely Ask
Doctors usually ask questions to understand the symptoms and possible genetic links:
- Is there a history of unusual bleeding or lots of bruises?
- Have you had issues with bleeding after a vaccination or surgery?
- Do you have any joint pains, swelling, or warmth?
- Does anyone else in the family have a similar condition?
