Hemophilia C

 

Hemophilia C is a rare bleeding disorder that affects the blood’s ability to clot.

Unlike hemophilia A and hemophilia B, which are the more common hemophilia types, hemophilia C is caused by mutations in the F11 gene. The mutation creates a deficiency of a blood-clotting protein called factor XI.

A factor XI deficiency can lead to prolonged bleeding after injuries or surgery. It was first recognized in 1953 in people who experienced severe bleeding after having teeth removed.

Hemophilia C — also called factor XI deficiency or Rosenthal syndrome — is estimated to occur in 1 person in 100,000 in the U.S.

Hemophilia C genetics and inheritance

Hemophilia C inheritance is autosomal recessive, as the F11 gene associated with the disorder is located on a non-sex determining chromosome. For a person to develop hemophilia C, they need two copies of the affected gene — one inherited from each parent.

Men and women are affected equally by hemophilia C. This is unlike hemophilia A and B, which mostly affect males.

In certain cases, hemophilia C may be inherited in an autosomal dominant manner. In these cases, having a single copy of the faulty gene can cause hemophilia C. A person with only one copy of the mutated gene may have milder symptoms and rarely experiences severe symptoms.

In contrast, hemophilia A and B both follow an X-linked recessive pattern, which is why those hemophilia types are more common in males.

Hemophilia C symptoms

People with hemophilia C generally have symptoms that are not as severe as with hemophilia A or B. Joint and muscle bleeding are much less common in hemophilia C than in other forms of hemophilia, as is spontaneous bleeding.

In both hemophilia A and B, the activity of factor VIII or IX respectively, determines the severity of hemophilia. Hemophilia A and B cases are characterized as being mild, moderate, or severe.

However, the amount of factor XI in the blood doesn’t correlate to how much a person with hemophilia C may bleed. So, it is not possible to predict whether symptoms will be mild or more severe based on factor XI levels.

A person’s family history and any issues with bleeding can be a more reliable indicator of symptoms, which also may vary over time.

Hemophilia C symptoms may include:

• frequent nosebleeds
• painful bruising after surgery
• excessive bleeding after surgery or injury, including circumcision or tooth extraction.

Women with hemophilia C may have a very heavy and painful menstrual flow and develop anemia, causing fatigue and low energy.

During pregnancy, the level of factor XI usually remains consistent. Most women with hemophilia C have uncomplicated pregnancies and deliveries. But there is a risk of excessive bleeding or bleeding complications during or after giving birth. For this reason, it’s important to see a gynecologist and a hematologist (a doctor who specializes in diseases of the blood).

Hemophilia C treatment

Hemophilia C often doesn’t require treatment unless a person is having a surgical procedure and major bleeding is a risk.

Hemophilia C treatment may include replacement therapy, which involves an infusion of the missing clotting factor XI. Sources of factor XI include fresh frozen plasma, a blood derivative, or factor XI concentrates.

Factor XI concentrates contain a highly concentrated form of factor XI. They are available in Europe and Canada, but not in the U.S.

Women who have hemophilia C and unusually long-lasting and heavy menstruation may be prescribed birth control pills or injections, or an intrauterine device.

Fibrin glue — a topical adhesive that imitates the final stages of blood clotting — can be used to maintain blood clotting. In combination with fresh frozen plasma, it can help with bleeding after hernia repair surgery or circumcision.

Antifibrinolytics such as Cyklokapron (tranexamic acid) are medications that help promote blood clotting and may be taken to stop bleeding and for easing heavy menstruation.

It’s important to work closely with the hemophilia treatment team to develop a personalized plan based on specific symptoms. It should include regular follow-ups and updates about symptoms.

Hemophilia C diagnosis

To get a hemophilia C diagnosis, a person’s medical history will be considered, including whether they have a family history of bleeding disorders or have had excessive bleeding after surgeries or dental procedures.

A hematologist may run a number of lab tests and do genetic testing. These may include:

• Screening tests specifically determine how long it takes for blood to clot.
• Clotting factor tests measure the activity of clotting factor proteins in the blood. A factor XI assay helps confirm the diagnosis of hemophilia C.
• Genetic tests identify mutations in the F11 gene associated with hemophilia C and may be recommended for people with a family history of hemophilia who are planning to have children.

Living with hemophilia C

People with hemophilia C should be in regular contact with healthcare providers at a specialized hemophilia treatment center. There are more than 140 hemophilia treatment centers in the U.S. and over 25 treatment centers in Canada.

Healthcare professionals can provide recommendations for dentists and surgeons who are familiar with treating people who have hemophilia.

Other tips for living with hemophilia C include:

• Carry a health condition identification card, or wear a MedicAlert bracelet, in case emergency treatment is needed.
• Don’t take aspirin; it increases the tendency to bleed. Consult a healthcare provider about suitable pain medications.
• Keep up with regular vaccinations.
• Eat a well-balanced diet, drink alcohol in moderation, and get plenty of sleep.
• Use safety equipment to minimize the risk of bleeding when playing contact sports or doing activities with a risk of injury such as skateboarding, rock climbing, and weightlifting.

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Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.