Hemophilia is a rare and often misunderstood disease. Many people only know that it’s a blood disorder, and after that, myths and misinformation abound.
So what exactly is hemophilia? Alisa Wolberg, professor of pathology and laboratory medicine and member of the UNC Blood Research Center at the University of North Carolina at Chapel Hill, tells Yahoo Life that “hemophilia is a disease in which blood does not clot properly. People with hemophilia can bleed more than normal after they are injured and have a higher risk of developing bleeding in their brain, an especially dangerous form of stroke.”
Wolberg, who is also vice chair of the American Society of Hematology Committee on Scientific Affairs, adds that people with hemophilia can also have “bleeding into their joints, and this can cause damage and make it difficult to bend the joint.”
Hemophilia is caused by abnormalities in one of two blood-clotting proteins: factor VIII and factor IX, according to the Cleveland Clinic. When factor VIII is affected, the disease is called hemophilia A, which is the most common type. When factor IX is affected, the disease is called hemophilia B. People with hemophilia are either missing certain blood-clotting factors or they don’t work properly, according to the Cleveland Clinic.
“There are many mutations that cause hemophilia — 30% of which are spontaneous; that is, not inherited,” Dr. Margaret Ragni, a professor of medicine at the University of Pittsburgh Department of Medicine and medical director of the Hemophilia Center in Western Pennsylvania, tells Yahoo Life.
Here, experts clear up some common misconceptions about hemophilia:
Misconception #1: Hemophilia only affects boys.
“Since the genes that code for the factor VIII and factor IX proteins are found on the X chromosome, hemophilia most often affects men and boys,” Wolberg says. “However, women and girls can also have hemophilia.”
Ragni explains that females are carriers of the disorder if they have an affected X chromosome “either from their affected father or affected mother.” However, in some cases, they can have symptoms of hemophilia, according to the Centers for Disease Control and Prevention. “They may have significant bleeding, especially with gynecologic bleeding with periods and delivery, or with trauma or surgery,” says Ragni.
Misconception #2: People with hemophilia cannot have a normal life or play sports.
Wolberg refutes this common myth. She points out that “modern treatments are very good at helping blood clot normally. This means that with proper treatment, people with hemophilia can have a very normal life and can play sports. In fact, exercise is just as important for people with hemophilia as it is for people who do not have hemophilia.”
Misconception #3: Hemophilia mainly affects members of the royal family.
“Hemophilia may be best known because Queen Victoria had an abnormal copy of the factor IX gene and passed this on to her children,” explains Wolberg. “However, hemophilia has existed for approximately 2,000 years and can affect people in all countries and in all walks of life.”
Ragni explains that “about two thirds of people with hemophilia inherited this from a family member. However, about a third of people with hemophilia have no known family history of hemophilia.”
Genetic testing can determine whether a woman is a carrier and the likelihood that she will have an affected son, according to Ragni. Cord blood testing is used at birth to detect males who have hemophilia and assist families very early on in learning about the disorder and its treatment options.
Misconception #4: When gene therapy evolves, there will no longer be a need for hemophilia treatment centers.
Although gene therapy is promising, Ragni explains that diagnosis and management of the disorder will still be needed, adding that, “so far, individuals with inhibitors [which make it harder to stop bleeding with treatment] and those who are under age 18 are not eligible for gene therapy, so they still require care.”
The good news is that there are several treatment options available for people with hemophilia. The main treatment involves replacing the missing blood-clotting factor, which is typically given as an injection or infusion, according to the Cleveland Clinic.
It’s a costly condition to treat, but experts say that progress is being made. “This is an exciting time in hemophilia,” says Ragni, “with novel non-factor therapies in development and clinical trials that can be given by simpler subcutaneous administration, reduce fewer bleeds and afford a more normal lifestyle.”
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