According to the Centers for Disease Control and Prevention, the number of people with hemophilia in the United States is estimated to be about 20,000. Michael Toole, MD, PPG – Oncology, Hematology Care Team, explains the condition and some of the important things those living with the disease need to know.
What is happening in the body when someone has hemophilia?
Typically, there is a congenital deficiency of Factor VIII (Hemophilia A) or Factor IX (Hemophilia B). These factors are involved in hemostasis (forming a clot), and when they are decreased or absent a patient is at an increased risk for bleeding. The condition is typically diagnosed in children.
What are the common risk factors for hemophilia?
Congenital hemophilia is an X-Linked disorder (typically only symptomatic in males) that is inherited from a patient’s mother. There’s a 50 percent chance of having the altered gene passed down from a mother who is a carrier. Women can be carriers of the altered gene and can inherit it from their mother (50% of the time) or father (100% of the time) and are rarely symptomatic. To put it simply, patients usually have a family history of hemophilia.
There are rare non-inherited factor inhibitors that can trigger “acquired hemophilia” causing significant bleeding at any time in a patient’s life.
What special considerations do people with hemophilia have to keep in mind?
Typically, patients are seen starting at a young age and receive prophylactic or preventative treatment. Although there is newer data with gene transfer therapy that could potentially “cure” hemophilia, some contact sports should still be avoided for patients with lower factor levels.
If a person with hemophilia has to have surgery, what precautions need to be observed?
Any patient with hemophilia should be seen by a hematologist prior to any planned procedures so that appropriate pre- and post-operative factor replacement can be arranged. This often needs to be done weeks in advance due to insurance challenges with obtaining factor replacement. Surgeries should typically be performed at a facility that has the capacity to run factor levels in real time in order to adjust factor replacement dosages.
Are there any lifestyle modifications someone with hemophilia can make to improve the condition?
Generally, if a patient has had recurrent joint bleeding, which can lead to long-term inflammation of the joint (known as arthropathy), they can participate in physical therapy with a therapist who has experience with bleeding disorders, in order to improve long-term mobility/function.
Any other tips for those living with hemophilia?
Do not proceed with any procedure or lab work involving needles without discussing it with a hematologist first!
