Hemophilia

What is it?

Hemophilia is a genetic and inherited disease associated with a congenital organic deficiency in the blood clotting process, which occurs in about 1 in 10,000 inhabitants.

What happens?

The blood is made up of 12 clotting factors (components of the blood that help control bleeding), which are represented in Roman numerals, with each type of hemophilia associated with a number from I to XII. Clotting factors are proteins in the blood that interact to help the blood clot (as the name implies), stopping bleeding.

Hemophilia A and hemophilia B are the two main types, both caused by a deficit of a specific clotting factor. Hemophilia A, (which accounts for about 80% of all cases), is then associated with factor VIII (8) and hemophilia B, on the other hand, with factor IX (9).

Symptoms

Both types of hemophilia share the same type of symptoms and hereditary pattern, namely bleeding that often occurs in muscles and joints that can be fatal if it occurs in the central nervous system. Carriers of this disease are at a higher risk of bleeding especially after surgeries or other procedures. Before undergoing any kind of intervention, they should undergo prophylactic treatment.

The severity of the disease is related to the degree of deficiency of the clotting factor concerned in the blood.

Diagnosis

The diagnosis of this disease is obtained through blood tests.

Usually the diagnosis is made in several situations: when the father has hemophilia, when there are symptoms or when the mother is a carrier of the hemophilia gene

It is through blood tests that the disease can be diagnosed. The blood is tested for clotting time, clotting factor levels, and the presence or absence of clotting factor.

A doctor may suspect hemophilia in a child (especially if it is a boy) when the child bleeds without apparent cause or more than would be expected after an injury.

Hemophilia can be diagnosed at an early age, as children or even in adults. Cases of severe hemophilia are more evident at an early age, and milder cases of this disease are diagnosed later in childhood or in adults.

Treatment

The primary goal of hemophilia treatment is to prevent and treat bleeding.

There are two types of treatment. Prophylactic treatment, given to prevent spontaneous bleeding, and episodic treatment, given for clinically relevant bleeding.

Patients with this disease should avoid situations that can cause bleeding and avoid certain medications such as aspirin and anti-inflammatory drugs that can interfere with platelet function. Currently, there are several drugs being studied for the control of bleeding. An example is emicizumab, which binds to factors IX and X in such a way that it allows the blood to clot without factor VIII.

Transfusions are also performed to replace missing clotting factors.

How hemophilia is transmitted

Although it has a hereditary pattern, this disease can appear in anyone. Females are more likely to transmit this disease, while males are exclusively affected by the disorder.

Hemophilia cases are often known in children with no family history, but in most cases the mother is a carrier of this disease.