Let’s talk about hemophilia

Hemophilia is a rare disorder in which blood does not clot properly. It occurs because the body either does not produce enough or is missing certain blood clotting proteins, such as factor VIII or factor IX. Our bodies depend on these factors to promote clotting and to stop bleeding.¹ A symptom of hemophilia is prolonged bleeding after an injury.² People with hemophilia may experience spontaneous bleeding episodes that most often occur in muscles, joints, and soft tissue.² Currently, there is no cure for hemophilia.³ There is, however, treatment that can control and prevent bleeding.⁴

Learn more about the blood clotting process.

Types

Hemophilia is rare, but the most common types are hemophilia A and hemophilia B.¹

• Hemophilia A, also called classic hemophilia, is when there is not enough clotting factor VIII¹
• Hemophilia B, also called Christmas disease, is when there is not enough clotting factor IX¹

Discover more about hemophilia A and hemophilia B.

Symptoms and bleed locations

Cases of hemophilia can be mild, moderate, or severe, depending on the level of factor deficiency.⁵ Common symptoms include¹:

• Swelling and pain in the joints such as knees, ankles, and elbows
• Bruising and swelling of soft tissues
• Bleeding in the mouth and gums
• Blood in the urine or stool
• Frequent nosebleeds that are difficult to stop

Bleeds can occur internally (inside the body and cannot be seen) and externally (blood is seen outside the body). A few examples of external and internal bleeds are noted below.⁶

Signs of a bleed

It’s important to know how to recognize the signs of a bleed and treat it right away.^6,7 Different types of bleeds have different signs and symptoms.⁶

Tingling or numbness, blue skin coloring, and veins in the arms or legs that look bigger than usual may mean that blood is putting pressure on a nerve. If you have any of these three signs, call your healthcare provider (HCP) right away!⁹

Bruises are common in people with bleeding disorders such as hemophilia. Large bruises can be a telltale sign of soft tissue bleeds under the skin.⁶

Hemophilia is uncommon

Hemophilia A is rare and diagnosed in about 1 out of every 5,000 male births.¹ Women can also have hemophilia, but it is even more rare.^1,10

Hemophilia A is about 4 times more common than hemophilia B, with around half of the patients having the severe form of hemophilia A. It’s also important to note that hemophilia affects people from all racial and ethnic backgrounds.¹

What causes hemophilia?

Hemophilia is often the result of an inherited genetic mutation. It happens in one of the genes that’s responsible for the instructions to make clotting factors. The mutation can cause the clotting factor to be missing or to not work properly.¹

The diagram above shows how the mutated gene found on the X chromosome is inherited. Because hemophilia is an X-linked recessive disorder, it can only be passed from a mother to her child via the X chromosome. A female who has one of the affected X chromosomes is known as a 'carrier.'¹

This diagram shows the inheritance pattern of a mother who is a carrier and a father who does not have hemophilia.¹ Each pregnancy has a 25% chance of resulting in a male with hemophilia, a 25% chance of resulting in an unaffected male, and a 25% chance of an unaffected female, and a 25% chance of a female carrier.^1,11

In rare instances, females may also develop hemophilia if both of their X chromosomes have the mutation or one is affected and the other is missing or inactive.¹

Diagnosing hemophilia

The diagnosis of hemophilia can be confirmed through a blood test that measures blood clotting factor levels.¹² However, hemophilia can also be suspected through the presentation of symptoms. If there is a known family history of hemophilia, a child can be tested before or after birth.¹²

An HCP may suspect hemophilia if:

• There is a family history of abnormal bleeding¹²
• A newborn has prolonged bleeding from heel sticks or following circumcision¹²
• A child has prolonged bleeding from the mouth after losing a tooth¹²
• A child has unexplained bruising when beginning to crawl or walk¹³
• Prolonged bleeding after injury or surgery occurs¹²

“When my children were diagnosed, I had a million questions that raced through my mind.” — Lou Ann, parent

There are several blood tests used to detect a blood clotting disorder. Clotting factor blood tests (also called factor assays) are required to diagnose a specific bleeding disorder. Factor blood tests can reveal the type and severity of hemophilia.¹³

Blood tests¹³
• A complete blood count (CBC) test
• Coagulation tests to measure how long it takes the blood to clot
• Clotting factor tests to confirm a hemophilia diagnosis as well as type and severity

Treatment

Thankfully, there are many treatment options today for people with hemophilia. It is typically treated with medicines that replace the missing or inactive blood-clotting factor.⁴ Treatments include plasma-based factor, recombinant factor (standard and extended half-life), and non-factor options.¹⁴ These treatments can be used to control bleeding episodes (called “on demand”) and even prevent bleeding episodes (called “prophylaxis”).⁴