In the 1950s and 1960s, the life expectancy of a person with severe hemophilia was just 11 years. Today, a child born with this bleeding disorder can expect a normal lifespan and get to do things that previous generations of kids with hemophilia never could.
“Hemophilia treatment is the poster child of what we can achieve with science,” says UNC Health hematologist Nigel Key, MBChB. “It’s been completely revolutionized in my lifetime.”
Hemophilia, which affects about 1 in 10,000 people, is marked by the absence of clotting factors in a person’s blood. Clotting factors are proteins that activate to stop bleeding when someone is injured. People with hemophilia will keep bleeding, both externally and internally, and those internal bleeds can be dangerous for joints and organs.
Some of the science that changed the reality of living with hemophilia was done at UNC Chapel Hill, where testing and treatment methods were discovered. The research continues today.
Dr. Key explains what you need to know about this condition.
What Causes Hemophilia?
A faulty gene causes a deficiency in certain clotting factors, resulting in hemophilia.
“In two-thirds of cases, it’s associated with a family history of the disease, but in the remaining one-third of cases, there’s no known family history and a new mutation occurs,” Dr. Key says.
The genes for hemophilia are located on the X chromosome. Females have two X chromosomes, one from their mother and one from their father; males have an X chromosome from their mother and a Y chromosome from their father. If a female has a faulty gene resulting in hemophilia on one of her X chromosomes, the other can compensate, meaning that women who carry the gene rarely have symptoms of hemophilia. If a male has a faulty gene on the X chromosome, the Y chromosome cannot make up the difference.
As a result, severe hemophilia affects males almost exclusively, and it is passed from mother to son. Because men pass on the Y chromosome to a son, hemophilia cannot be passed from father to son, but daughters of men with hemophilia are carriers of the gene.
Types of Hemophilia
There are two types of hemophilia. Hemophilia A is caused by a deficiency of clotting factor VIII (eight) and hemophilia B is caused by a deficiency in clotting factor IX (nine). A is much more common than B.
The severity of a person’s hemophilia is determined by how much of the clotting factor is produced.
For example: the normal range of factor VIII is 50 to 150 percent.
“Half of patients have severe hemophilia, which is when you have less than 1 to 0 percent of that clotting factor,” Dr. Key says. “The other half of patients will have moderate hemophilia, when you have up to 5 percent of the factor, or mild hemophilia, which is over 5 but less than 40 percent.”
People with mild or moderate hemophilia face bleeding challenges, particularly after surgery or physical trauma, but people with severe hemophilia are also at risk for spontaneous bleeding, which can happen without a known cause. Internal bleeding most commonly occurs within joints and muscles, causing swelling and pain. It can also cause bleeding in the brain. That’s why a person with hemophilia hitting their head can be dangerous, even if it didn’t seem like a serious blow.
Diagnosis and Symptoms of Hemophilia
If you are a woman with a known family history of hemophilia, you may have genetic testing to determine if you are a carrier and to measure your factor VIII or IX levels, though treatment is rarely needed.
If you are a carrier and have a baby, that does not necessarily mean that your child will have hemophilia. You can get genetic testing during pregnancy to see if your baby has hemophilia, or ask for a blood test at birth if there’s a known family history.
Doctors sometimes suspect hemophilia in a newborn if there is excessive bleeding after a circumcision or blood draw, or if there’s evidence of a brain bleed.
“It’s also commonly diagnosed when a male child is learning to walk,” Dr. Key says. “If he develops a swollen and tender joint, it can indicate a bleed.”
Mild or moderate hemophilia often take longer to diagnose, as significant bleeding may not occur until after major dental work, surgery or a traumatic injury.
Less commonly, symptoms of hemophilia include visible, excessive bleeding from cuts and shots or unexplained nosebleeds.
“An experienced patient will learn to recognize the early signs of an internal bleed, usually a joint bleed,” Dr. Key says. “They’ll notice stiffness or a change in range of motion and can get treatment early, rather than waiting until a joint is filled with blood.”
Treating Hemophilia
Treatment of hemophilia boosts clotting factor levels, which prevents bleeds from happening in the first place.
Originally, the clotting factor used in treatment was derived from plasma donations, and patients received a concentrate that they infused at home through an IV. However, in the 1980s, large numbers of patients with hemophilia were diagnosed with HIV and hepatitis C due to infected plasma. You may remember the case of Ryan White, a teenager who had hemophilia and became infected with HIV from a clotting factor treatment.
Today, clotting factor treatment is synthetic, or created in a lab. (Plasma is also now effectively screened for blood-borne viruses)
“The first patient to receive synthetic factor VIII was at UNC,” Dr. Key says. “This disorder has a history of tragedies with infectious disease, but out of the ashes has risen incredible technology that is safe and effective.”
Many people with hemophilia must receive a dose of clotting factor at least once a week, either intravenously or via injection. This can be done at home once children or their caregivers are trained on how to do it. How often someone administers a dose and the size of the dose depends on their type of hemophilia. Doses can be increased if a person has an upcoming medical procedure or dental surgery (which may be the only time that a person with mild hemophilia requires treatment).
If a person develops a severe joint or muscle bleed, clotting factor may need to be administered in the hospital.
“Patients have minimal, if any, bleeding on the appropriate therapy,” Dr. Key says. “Some people do develop antibodies to factor VIII, because their immune system sees the treatment as foreign, but there are now also better available options for that complication.”
Another recently approved approach is gene therapy. Here, regular infusions can be replaced by a single infusion of a functioning healthy gene, which tricks the body into thinking it has the gene that produces factor VIII or IX so that it begins producing it on its own. Dr. Key says work is still being done in clinical trials to determine how much clotting factor gene therapy can produce during a lifespan, but it is considered a highly effective treatment for many patients, pending more long-term results.
Living with Hemophilia
If you or your child has hemophilia, it’s important to stay connected to a doctor experienced in the condition so they can manage your treatment and advise you on how to stay well.
It’s also important to know the signs of a bleed and prepare for the possibility of injury, and to have a plan in advance of a medical procedure such as surgery.
“We work with all patients to have a treatment plan and access to clotting factor in case of a bleed,” Dr. Key says. “Because this is a rare disease, some hospitals may not have clotting factor in their pharmacies, especially in the case of smaller hospitals. We can supply patients with a dose to take to the ER if they’re not within minutes of a stocked hospital or if the caregiver isn’t comfortable administering it through an IV.”
Because of improvements in treatment, Dr. Key says there are two distinct generations of people living with hemophilia.
“Patients over the age of 40 were not brought up in an era where they were getting round-the-clock coverage with clotting factor,” he says. “As a result of repeated bleeds in their joints, many have developed orthopedic problems, such as arthritis, chronic pain or loss of range of motion. As children, they may have spent weeks or months in the hospital, dealing with pain, bleeding or disability.”
These patients may require specialized pain management. Additionally, some older patients may have to manage the effects of HIV or hepatitis C alongside hemophilia.
In previous decades, children with hemophilia would have been advised to avoid any activity that could have resulted in injury, which limited their opportunity to play with other children, skip or run, or ride a bike.
“Now, the treatments are extremely good, so younger patients on preventive treatment may not even know what a joint bleed is,” Dr. Key says. “A kid shouldn’t play full-contact football or wrestle, but if they’re appropriately treated, other sports are very doable. It’s possible now for kids to live a completely normal life.”
If you’re concerned about new symptoms, talk to your doctor. If you need a doctor, find one near you.