What Is Hemophilia?

Hemophilia is a hereditary disease and is linked to sex, specifically linked to the X chromosome. This means that women carry the hemophilia gene and can pass it on to their children.

Hemophilia is a chronic blood disease characterized by spontaneous bleeding. There are different types of hemophilia and they’re classified according to their severity. In this article, we explain what hemophilia is, as well as the most important information you should know about it.

What is hemophilia?

Hemophilia is a chronic, inherited blood disease characterized by bleeding disorders. It’s due to a deficiency or absence of some molecules in the blood, called clotting factors.

Specifically, the clotting factors affected are factor VIII and factor IX. These molecules are part of our body’s coagulation system, whose function is very important to stop bleeding with the formation of a clot when there’s an injury or wound.

It’s considered a rare, or very rare disease. It affects approximately 1 person in 10,000, in the case of hemophilia A, and 1 in 50,000, in the case of hemophilia B. The people who are affected are more likely to bleed profusely.

How is it transmitted?

Hemophilia is a hereditary disease and is linked to sex, specifically linked to the X chromosome. This means that women carry the hemophilia gene and can pass it on to their children. If a woman contains this gene, she will have a 50% risk that her son will suffer from this disease and a 50% risk that her daughter is a carrier and can pass it on to her offspring.

Types of hemophilia

Depending on the clotting factor that’s affected, there are two types:

• Hemophilia A: the affected clotting factor is Factor VIII.
• Hemophilia B: In this case, it’s Factor IX that is affected.

Sometimes patients don’t have a family history of the disease. In this case, the bleeding disorder appears due to a mutation in one of the factor VIII or IX genes.

There’s also the so-called acquired hemophilia, which is produced by the abnormal development of antibodies against factor VIII, and our own immune system is the one that attacks and destroys the clotting factor.

Classification according to its severity

The severity of the disease will depend on the reduction of the factor, being more severe the less clotting factor the person has. Therefore, the disease can be:

• Mild: In this case, bleeding doesn’t usually occur spontaneously, but starts due to a blow, surgery or trauma. About 15% of patients have mild hemophilia.
• Moderate: Patients with moderate hemophilia only have between 1 and 5% of the necessary factor. For this reason, they can suffer serious bleeding after surgery or trauma and, in addition, they can suffer spontaneous bleeding.
• Severe: Approximately 60% of patients have severe hemophilia. In this case, spontaneous hemorrhages are much more frequent, especially in muscles.

Main symptoms of hemophilia

As we have mentioned, the most characteristic symptom of hemophilia is bleeding or hemorrhages, which can appear in different ways:

• Hematomas or bruises in greater quantity and larger than in normal conditions.
• Bleeding in joints and muscles.
• Bleeding that takes a long time to stop, caused by a cut or wound.

In addition, these hemorrhages can be internal – when the blood remains inside the body – or external. They most commonly appear in the muscles and joints, especially in the knees, ankles, elbows, and muscles of the arm, thigh, or calf.

When there’s repeated bleeding in the joints, they can cause cartilage and bone damage, even becoming irreversible. Another symptom is pain, which is also caused by bleeding in the joints and muscles.

Diagnosis and treatment

Hemophilia is diagnosed through a blood test, through which it’s possible to know which factor is affected, and to what extent. In addition, if a pregnant woman is a carrier, a prenatal test can be performed from the ninth week.

Treatment is carried out through an intravenous injection that contains the deficient or absent factor. Currently, there are safe and effective treatments that have improved the quality of life of patients in recent decades.