Hemophilia

Diagnosis

Severe cases of hemophilia are often diagnosed within the first year of life. However, mild forms of the condition may go unnoticed until adulthood. In some cases, individuals may only learn they have hemophilia after experiencing excessive bleeding during a surgical procedure.

Clotting-factor tests are essential for confirming a diagnosis. These tests measure the levels of clotting factors in the blood and help determine the severity of the condition.

For families with a history of hemophilia, genetic testing can identify carriers and support informed decisions about pregnancy planning. Prenatal testing can also determine whether a fetus is affected, though it carries some risks. It’s important to discuss the potential benefits and risks of such testing with a healthcare professional.

At specialized centers like Mayo Clinic, a team of experts can guide patients through the diagnostic process and develop personalized care plans for managing hemophilia effectively.

Treatment

The cornerstone of treatment for severe hemophilia is replacement therapy, which involves infusing the missing clotting factor into a vein. This therapy can be administered in different ways:

• On-demand treatment: To manage an active bleeding episode.

• Preventive treatment (prophylaxis): Regular infusions at home to prevent bleeding episodes.

• Continuous therapy: For individuals who require ongoing clotting support.

Replacement clotting factors can come from donated human blood or be synthetically produced in laboratories as recombinant clotting factors.

Other treatment options include:

• Desmopressin: Useful for mild hemophilia, this hormone helps the body release more of its own clotting factor. It may be administered through a slow intravenous injection or nasal spray.

• Emicizumab (Hemlibra): A newer medication for hemophilia A that helps prevent bleeding episodes without containing actual clotting factors.

• Clot-preserving medications (anti-fibrinolytics): Help prevent clots from breaking down too quickly.

• Fibrin sealants: Applied directly to wounds to promote clotting and healing, especially beneficial during dental procedures.

• Physical therapy: Supports recovery and reduces pain when joint damage occurs from internal bleeding. In severe cases, surgery might be required.

For minor bleeding, basic first aid measures are often sufficient:

• Apply direct pressure and a bandage to the wound.

• Use an ice pack for small bruises or bleeding beneath the skin.

• For mouth bleeding, ice pops can help slow the bleeding.

Effective diagnosis and timely treatment are vital to managing hemophilia, preventing complications, and improving quality of life.