Understand what hemophilia is and how the disease can be treated

A hemophilia is a disease characterized by inability to clot blood , a process necessary to stop hemorrhages and bleeding. According to the World Hemophilia Federation, Brazil has the fourth largest population of hemophilia patients in the world, with around 13 thousand people affected. To raise public awareness about this rare condition, the World Hemophilia Day this Wednesday (17).

This is a rare disease, genetic and hereditary origin and is caused by defects in the genes that encode and allow the production of proteins that act in blood clotting, causing hemorrhages resulting from the rupture of blood vessels. With this lack of production, a person with hemophilia may have prolonged bleeding externally and internally which can affect your quality of life.

There are two types of hemophilia: A and B. The first type, the most common of the disease, is characterized by a deficiency in coagulation factor VIII, while type B, less common, causes changes in the production of coagulation factor IX, It is also known as Christmas disease, according to the Brazilian Hemophilia Federation.

Next, understand more about the symptoms of hemophilia, how it affects the patient's life, how diagnosis and treatment are carried out.

What are the symptoms of hemophilia?

A hemophilia A and the hemophilia B have similar symptoms . “The clinical manifestation depends on how reduced the production of the factor is. Generally, hemophilia only manifests clinically [com sintomas] when production is very reduced”, explains Martha Mariana Arruda, hematologist and oncologist at Sírio-Libanês in Brasília, to CNN .

According to the Mayo Clinic, if blood clotting factor deficiency is mild, bleeding may occur only after surgery or trauma. However, if the deficiency is severe, bleeding can occur easily for no apparent reason .

Signs and symptoms of spontaneous bleeding include:

• Unexplained and excessive bleeding due to cuts or injuries;
• Bleeding after surgery or dental treatments;
• Large or deep bruises;
• Unusual bleeding after vaccinations;
• Pain, swelling or tightness in the joints;
• Blood in urine or feces;
• Nosebleeds with no known cause;
• Irritability for no apparent reason (in babies).

“Bleeding can pose a problem to these patients’ lives. In particular, hemophiliacs have hemarthrosis, which is bleeding in the joint that, in the long term, can cause the destruction of that joint”, explains Arruda. “A hematoma can also occur in the muscle, causing consequences for muscle function and the nerves that are passing through there”, he adds.

In addition, the Mayo Clinic also warns of the risk of bleeding in the brain in people with severe hemophilia. According to the organization, a simple blow to the head can cause brain bleeding, which, although rare, represents one of the most serious complications resulting from the disease. Signs and symptoms, in this case, include:

• Prolonged headache;
• Frequent vomiting;
• Drowsiness or lethargy;
• Changes in vision;
• Sudden weakness;
• Seizures.

How to diagnose hemophilia?

O diagnosis of hemophilia is usually done still in early childhood , especially in the case of severe hemophilia, as Arruda explains. “The child starts to have bruises on their body; When he starts to crawl, he may have joint involvement or, possibly, joint edema. This can generate distrust in the doctor, who requests a test”, says the hematologist.

This is the case of aPTT (Activated Partial Thromboplastin Time), which evaluates blood clotting. “If this test is altered, it is worth measuring the clotting factors to be able to identify what type of hemophilia it is,” she says.

Hemophilia has no cure, but there is treatment

A hemophilia has no cure but there is treatment, the objective of which is restore normal blood clotting . There are several possible ways to achieve this. “Until the 90s, we transfused fresh frozen plasma or cryoprecipitate, depending on the circumstance, which replaces these missing factors”, explains Arruda.

However, with this type of treatment, patients with hemophilia were subjected to several transfusions, which could increase the risk of infections such as HIV or hepatitis B and C. With the advancement of technology, this method was no longer used.

Nowadays, treatment is carried out by replacing the deficient clotting factor through concentrates of factor VIII (for hemophilia A) or IX (for hemophilia B), produced in the laboratory.

“Currently, we no longer wait for hemophiliacs to bleed before we can treat them; We already use the factor to prevent the development of bleeding”, explains Arruda.

Another form of treatment currently available is medication. emicizumab for individuals with hemophilia A. This medication was incorporated into the SUS (Unified Health System) following a recommendation published in a report by the National Commission for the Incorporation of Technologies into the SUS (Conitec) on this technology.

According to the Ministry of Health, the incorporation of emicizumab expands treatment options for people living with hemophilia, providing quality of life and the possibility of living new experiences.

Arruda also cites studies that evaluate the gene therapy for hemophilia . “Recently, publications have been made on RNA therapy in an attempt to restore the gene that is deficient in people with hemophilia. This has been studied for many years, but has not yet been subject to commercial use. But, increasingly, we are getting closer to this reality,” he says.