Hemophilia is a rare medical condition where blood doesn’t clot properly. Various treatment options are available to help prevent and control bleeding episodes.
After a cut or injury, the body normally forms clots to stop the bleeding. With hemophilia, it takes longer for bleeding to stop because your blood doesn’t have enough of certain blood-clotting proteins, called clotting factors. There are different types of hemophilia, and each involves different clotting factors.
Hemophilia A
Also called classic hemophilia, this is the most common type. It affects about 8 out of 10 people with hemophilia. People with hemophilia A don’t have enough clotting factor VIII (factor 8). Hemophilia A can be mild, moderate, or severe, depending on how much factor VIII is missing.
Hemophilia B
This type of hemophilia (also known as Christmas disease) occurs when people don’t have enough clotting factor IX (factor 9). It’s less common than type A, although it causes similar symptoms. For every 100,000 males, about 4 have hemophilia B.
Hemophilia C
This rare type happens when people don’t have enough clotting factor XI (factor 11). Unlike types A and B, which are linked to the X chromosome, hemophilia C is caused by gene changes in a non-sex chromosome.
People develop hemophilia C if they inherit a changed gene from both parents. Hemophilia C occurs in males and females equally. About 1 in 100,000 people have this type, which usually causes milder bleeding problems than other types of hemophilia.
People with hemophilia may experience different symptoms depending on how severe their condition is. Mild cases of hemophilia might only show symptoms after injuries or surgery. But people with severe hemophilia can experience bleeding even without obvious injury.
Common Bleeding Symptoms
The main signs of hemophilia involve bleeding that’s hard to stop, such as:
- Bleeding that lasts longer than usual after cuts or injuries
- Large, deep bruises that appear without a clear cause
- Persistent nose bleeds
- Blood in urine or stool
- Bleeding after dental work
Joint and Muscle Symptoms
Some people with hemophilia experience bleeding into their joints and muscles, which can cause additional symptoms such as:
- Warm, swollen, or painful joints, especially in your knees, ankles, and elbows
- Limited movement in the affected joints, usually after physical activity
- Morning stiffness in your hips and shoulders
- Muscle weakness in areas that have experienced bleeding
Symptoms in Infants and Young Children
Sometimes the first sign of hemophilia appears when a baby has unusual bleeding after circumcision (a surgical procedure to remove the foreskin of the penis, often done in the first few days of life). In other cases, parents start noticing signs as their baby grows and becomes more active. These signs might include:
- Easy bruising
- Longer bleeding from small mouth injuries, such as bumping into toys or during teething
- Unusual swelling or bruising after vaccinations or other injections
- Large, soft bumps (“goose eggs”) after minor bumps to the head
- Fussiness or crankiness without a clear reason
Hemophilia is usually inherited, meaning it’s passed down through families in genes.
Females inherit an X chromosome from each parent, while males inherit an X chromosome from their mother and a Y chromosome from their father. The genes responsible for making clotting factors are located on the X chromosome.
Males who inherit an X chromosome with the hemophilia gene will likely develop the condition. For females, hemophilia usually only occurs if both X chromosomes carry the gene or if one has the gene and the other X chromosome is missing or not working.
Females with the gene on just one X chromosome are called carriers and may have mild or no symptoms. They can pass the gene to their children.
In rare cases, people can develop hemophilia that isn’t inherited. This is called acquired hemophilia, and it happens when your body’s immune system mistakenly attacks and damages clotting factors. This can occur during or after pregnancy, with certain autoimmune diseases, or with age.
Risk Factors
The main risk factor for inherited hemophilia is having a family history, particularly on the mother’s side. Being male is also a major risk factor for hemophilia A and B.
When there’s a family history of hemophilia, healthcare providers often test newborns for the condition. In other cases, you may be diagnosed with hemophilia after unusual bleeding.
Healthcare providers use several blood tests to confirm hemophilia and determine its type and severity. These tests include:
- Complete blood count (CBC): Checks overall blood health and can show if blood loss has occurred
- Activated partial thromboplastin time (APTT): Measures how long it takes for blood to clot and can identify clotting problems
- Prothrombin time (PT): Tests how well specific clotting factors are working
- Factor VIII and IX activity tests: Measure the amounts of these clotting factors to diagnose the type and severity of hemophilia
For families with a history of hemophilia, genetic testing can provide important information.
Treatments can help manage hemophilia and prevent complications. Treatment options depend on the type and severity of hemophilia.
Clotting Factor Replacement
The main treatment for hemophilia involves replacing the missing clotting factor. Doctors may choose between two different types of replacement factors. One is made from human blood plasma that has been screened and treated. The other is created in a laboratory without using any human blood products.
DDAVP (Desmopressin)
DDAVP is a synthetic hormone that triggers the body to release more of its own factor VIII into the bloodstream. This treatment can help people with mild to moderate hemophilia A, but it isn’t effective for hemophilia B or C or severe hemophilia A.
Other Medications
Some medications, such as tranexamic acid and epsilon aminocaproic acid, help keep blood clots from breaking down too quickly. These medications can be especially helpful for treating mouth bleeding and during dental procedures.
Gene Therapy
Gene therapy adds healthy genes into the body, allowing it to make its own clotting factor. Scientists are still studying this treatment, but some people who have received gene therapy have been able to make their own clotting factor.
Surgery and Physical Therapy
When bleeding occurs in a joint, treatment might include surgery and immobilization the joint until it heals. After healing, physical therapy and exercise can help strengthen the muscles around the joint and improve movement.
While the condition itself cannot be prevented, people with hemophilia can take steps to prevent bleeding episodes and their complications. Working closely with your healthcare team to develop and follow a treatment plan can help reduce the risk of bleeding problems.
Many people with severe hemophilia receive preventive treatment, called prophylaxis. This treatment involves receiving clotting factor therapy several times per week to prevent bleeding before it starts.
If hemophilia runs in your family, genetic testing can provide information about the likelihood of passing the condition to your children. This can help you make informed decisions about future pregnancies and allow for early diagnosis and treatment if needed.
Without treatment, hemophilia can lead to serious health problems such as:
- Joint damage: Repeated bleeding into joints can cause damage over time, leading to pain, stiffness, and trouble moving. This is one of the most common complications of hemophilia.
- Muscle pain: Bleeding into muscles can cause swelling and pressure. If not treated quickly, this pressure can damage nerves and blood vessels nearby.
- Brain bleed: Any injury to the head can be dangerous because it might cause bleeding in the brain, which needs immediate medical care.
- Internal bleeding: Bleeding in your internal organs can be life-threatening.
- Inhibitors: Some people develop antibodies (called inhibitors) that fight against clotting factor treatments, making them less effective.
- Infection: People who receive blood products as part of their treatment have a small risk of blood-borne infections, though this is rare with modern treatments.
People with hemophilia today can expect to live as long as those without the condition.
Living with hemophilia may involve some lifestyle adjustments. Some activities, like many sports, carry a higher risk of injury, so knowing which precautions to take is important.
To help protect your health while staying active, you can:
- Exercise safely by working with your healthcare team to develop an appropriate fitness routine.
- Practice good dental hygiene to reduce the risk of bleeding from dental procedures.
- Maintain a safe home environment by removing trip hazards.
- Carry medical identification that indicates you have hemophilia.
