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For many years, health experts assumed that people who carried a gene variant (genetic change) associated with hemophilia didn’t have symptoms. However, that’s not always the case.
Research shows that some hemophilia carriers can have bleeding problems that range from mild to severe. In some cases, their symptoms can look like hemophilia.
Some carriers may never notice any bleeding problems. Others may experience heavy menstrual bleeding, easy bruising, frequent nosebleeds, joint pain, or bleeding after surgery or childbirth. Unfortunately, many symptomatic carriers of hemophilia are still underdiagnosed and undertreated.
Here’s what you need to know about hemophilia carrier symptoms and when to seek medical care.
Hemophilia is usually inherited through the X chromosome. Many females who carry an F8 or F9 gene variant (genetic change) linked to hemophilia on one of their two X chromosomes are called “carriers” because they can pass hemophilia to their children.
In the past, doctors believed carriers rarely had symptoms. Today, health experts know that some hemophilia carriers have lower-than-expected levels of clotting factor VIII (8) or IX (9). About 30 percent have clotting factor levels below 40 percent of normal, which can increase the risk of bleeding symptoms.
One reason some carriers have lower clotting factor levels is a process known as lyonization, or X-chromosome inactivation. This means one X chromosome is “turned off,” which may leave the X chromosome with the hemophilia gene variant more active. As a result, the body may make lower levels of clotting factor.
According to the Centers for Disease Control and Prevention (CDC), some female carriers have bleeding symptoms as severe as males with hemophilia.
Heavy menstrual bleeding is one of the most common bleeding symptoms in symptomatic hemophilia carriers.
Some people have heavy menstrual periods for many days, soak through pads or tampons quickly, or pass large blood clots. Others may bleed between periods.
Other than bleeding, some carriers of hemophilia have painful menstruation and midcycle abdominal pain. Some also develop ovarian cysts filled with blood that have a risk for bleeding into the abdomen.
“I’ve had severe bleeding issues since I was a young girl starting out with getting my period,” shared one MyHemophiliaTeam member. “Over the course of my life, I’ve had four bleeding events so bad that I ended up in the [emergency room].”
“My whole life, I’ve had horrible cycles!” another member wrote. “They last anywhere from 12 to 20 days at a time. And they were every three weeks when I was younger.”
Heavy bleeding can lead to anemia, a condition that happens when the body doesn’t have enough healthy red blood cells to carry oxygen. Anemia can cause fatigue, weakness, dizziness, and shortness of breath.
Pregnancy and delivery can also raise bleeding risks for symptomatic hemophilia carriers who want to become parents.
Some carriers may have heavy bleeding after childbirth, called postpartum hemorrhage. Others may bleed during pregnancy or after medical procedures related to pregnancy.
Because bleeding disorders may be overlooked in females, some obstetricians and gynecologists may have limited experience managing these complications.
One member of MyHemophiliaTeam shared: “Today, I’m scared. I found out I was pregnant, and then found out my blood disorder doctor has never treated a pregnant person with a blood disorder.”
Because of these risks, it’s important for hemophilia carriers to work closely with specialists who understand bleeding disorders and pregnancy care. Hemophilia treatment centers (HTCs) can work with OB-GYN teams to make safer pregnancy and delivery plans and help prevent or manage bleeding during pregnancy or after childbirth.
Carriers may also experience bleeding symptoms similar to those seen in other people with hemophilia, including:
Even minor procedures can sometimes cause excessive bleeding in symptomatic carriers. One MyHemophiliaTeam member wrote, “I’ve had bruising getting my blood pressure checked.”
Another shared complications after surgery: “I only had a minor knee surgery, but the results were not good. At the time, they didn’t acknowledge I was a symptomatic carrier. The results are a permanent super-sized right knee.”
If you’re planning surgery or dental procedures, talk with your care team ahead of time. Your doctor may recommend checking your clotting factor levels or making a bleeding prevention plan before the procedure.
Repeated bleeding into joints can damage cartilage (the smooth tissue that cushions joints) and cause chronic pain over time.
Research suggests that some women who are carriers have worse joint health than people without hemophilia. Common problem areas include the knees, ankles, and hips.
Joint bleeds may cause:
One parent on MyHemophiliaTeam shared about a loved one affected by hemophilia. “My daughter … now lives on her own, going to college and working at McDonald’s,” the member wrote. “I feel so bad because she literally can’t stand for eight hours a day. Her hips and knees swell due to the bleeding in her joints.”
Without proper treatment, repeated joint bleeds can lead to long-term joint damage and mobility challenges. Another member wrote, “My body has been damaged from hemophilia bleeds, and now I can’t walk.”
Studies show that some symptomatic carriers may have lower quality of life because of pain, fatigue, stress, and limits on daily activities.
Still, many carriers struggle to get diagnosed. Some are told their symptoms are “normal,” especially heavy periods or easy bruising.
If you think you may be a symptomatic carrier, consider making an appointment with a hematologist (a doctor who specializes in blood disorders) or visiting an HTC. Genetic tests can check for carrier status, and blood tests by a specialized healthcare provider can measure clotting factor levels and help guide treatment.
There are many treatment options available that may help manage bleeding symptoms and improve quality of life in hemophilia carriers.
On MyHemophiliaTeam, people share their experiences with hemophilia, get advice, and find support from others who understand.
Are you a symptomatic hemophilia carrier? Let others know in a comment below.
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