Hemophilia | Diagnosis & Treatment

How is hemophilia diagnosed?

Since hemophilia can affect multiple family members and generations of family, the first step to diagnosis is learning more about both the bleeding history and a history of bleeding among immediate and extended family members. This will help your doctor determine if your family has bleeding problems.

Testing for hemophilia typically includes a physical examination to rule out other conditions, routine blood tests and often more specialized blood tests, specifically for clotting factors. The tests will determine:

  • if blood is clotting properly
  • clotting factor levels (low or missing)
  • the type of hemophilia
  • the severity of hemophilia

How is hemophilia treated?

The type of treatment you or your child receive is dependent on the type and severity of the hemophilia. 

Factor replacement therapy

Concentrated forms for both factor VIII (for hemophilia A) and IX (for hemophilia B) are available, so a missing clotting factor can be simply replaced through an intravenous (IV) infusion. This type of therapy is the most common treatment option for moderate and severe hemophilia. There are many different factor VIII and factor IX clotting factors available. Your clinician will work with you to learn what factor concentrate will work best. 

For severe and some moderate hemophilia patients, it is important to regularly provide factor replacement to prevent bleed events. When factor therapy is given on a regular basis to prevent bleeding, it is called prophylaxis or prophylactic therapy. Typically, if you or your child receives prophylaxis, you are able to learn the skills to infuse factor replacement at home. 

Generally, those with mild or moderate hemophilia, only require factor replacement prior to a known situation that puts them at risk of bleeding, such as a surgery or dental procedure, or if they have an injury. This use of factor replacement is referred to as “on-demand therapy.”

Hemlibra® (emicizumab)

Emicizumab is a new, alterative medication for prophylaxis for patients with hemophilia A. Emicizumab is designed to mimic many of the functions of factor VIII (8). It is given as an injection under the skin rather than into a vein. It is not intended to treat a bleed event or provide adequate bleed protection at the time of surgeries.

Desmopressin (DDAVP or Stimate)

In mild to moderate cases of hemophilia, DDAVP may be another bleed-treatment option. This medication can be given through a vein or nasal spray, and works by stimulating the release of factor VIII from the body’s cells. DDAVP works well for boosting factor VIII levels prior to minor surgeries for mild to moderate bleed events. Because the body’s extra factor VIII stores are depleted quickly, it cannot be used for more than three consecutive days. Also, DDAVP alters the way the kidney manages water and salt, so caution is needed with fluid intake and physical activity after use.

Antifibrinolytic Medications

Antifibrinolytic medicines, including tranexamic acid and epsilon aminocaproic acid, help to make blood clots firmer. They can be used alone or with DDAVP or factor replacement therapy. Antifibrinolytic medications are most frequently used following dental work or to treat mouth or nose bleeding. These medications can be given by mouth or as an IV.  

Gene therapy

Researchers are trying to find ways to correct the missing or abnormal clotting factor at adequate enough levels to reduce or eliminate the need for factor replacement or other bleed treatments. Several different approaches to gene delivery are now under investigation. Results from recent trials hold promise.