Haemophilia

What is it

Hemophilia is a rare hereditary hemorrhagic disease due to the total or partial lack of plasma proteins essential for blood clotting. If it is factor VIII we speak of hemophilia A, if factor IX is missing we speak of hemophilia B.

The disease affects almost exclusively the male sex as it is linked to the X chromosome.

Depending on the amount of missing factor, hemophilia can be divided into three forms: mild, moderate and severe.

Causes

Hemophilia is a genetic disease, linked to the X chromosome and therefore is born with hemophilia.

Males who inherit an X chromosome with the mutated gene from their mother will manifest the disease, while females are healthy carriers of the disease unless they inherit the mutated gene from both their father and mother, but they are very rare cases.

For reasons not yet well clarified, the disease can skip a few generations. In addition, in some cases the mutation of the X chromosome can arise spontaneously.

Common symptoms

Bleeding can occur anywhere in the body that is of spontaneous origin or after trauma.

The most frequent haemorrhages occur in the joints (ematri) in particular knees, elbows and ankles, skeletal muscles (hematomas) and other soft tissues.

Hemorrhage typically causes hot swelling and a sensation of pain to the touch.

Complications

The most serious hemorrhages such as cerebral bleeding can be fatal if not properly and promptly treated. They are generally preceded by specific symptoms such as headache, nausea, vomiting and sometimes seizures.

The risk of bleeding is also high following surgery or, more simply, by the dentist.

Joint bleeding, if repeated, can permanently damage the joints thus creating posture problems and difficulty in walking and running (hemophilic arthropathy).

The development of inhibitors, i.e. antibodies against the deficient factor, represents the most serious complication of hemophilia. The presence of inhibitor neutralizes Factor VIII or IX making replacement therapy ineffective.

Treatment

The cure consists of replacement therapy, i.e. intravenous administration of the missing coagulation factor.

Today, in addition to plasma derivatives, effective and safe products obtained from recombinant DNA are available that allow home care.

The therapy can be “as needed” during bleeding or before surgery or in “prophylaxis” ie three times a week every other day with the aim of maintaining coagulation factor levels at an adequate concentration to prevent spontaneous bleeding.

When to consult your doctor

If the bleeding is prolonged, if you suffer severe head trauma and if large hematomas appear, it is advisable to contact a Hemophilia Center.

Haemophiliacs should consult their doctor before taking medications that could interfere with clotting.