blood health

Hemophilia - Diagnosis and Treatment

Diagnosis

It is possible to diagnose hemophilia simply from the symptoms, which the patient complains about.

However, confirmation occurs only after a blood test, through which the quantities of coagulation factors present are measured. This makes it possible to establish the type of hemophilia (which is essential for setting the most appropriate therapy) and the degree of severity.

GENETIC TESTS AND PREGNANCY

A pregnant woman, who has a family history of haemophilia, can submit her fetus to a genetic test to find out whether she is a carrier of the disease or not. However, the test should be considered and discussed with your doctor, as it involves risks for the child.

Treatment

Unfortunately, being a genetic disease, hemophilia is still incurable.

Nevertheless, today, thanks to advances in medicine in the field of genetic engineering, the haemophilic patient manages to lead a fairly normal life. Over the years, in fact, the therapeutic program has been enriched with new treatments and has improved others, such as blood transfusions, since they were potentially dangerous for the patient's health.

THE CHOICE OF TREATMENT

The choice of the most appropriate treatment depends on how severe the haemophilia form affects an individual.

  • For individuals with mild hemophilia: an on-demand therapeutic approach is used (ie upon request).
  • For individuals with moderate to severe haemophilia: a preventive or prophylaxis therapeutic approach is used.

THE ON DEMAND APPROACH

The term on-demand, on request, means that the treatment is administered to the patient only during a prolonged bleeding in progress.

In cases of hemophilia A:

We intervene with injections of desmopressin ( DDAVP ) or octocog alfa .

Desmopressiona is a synthetic hormone that stimulates the release and greater permanence of coagulation factor VIII in the circulation. In addition to intravenously, desmopressin is also administered as a nasal spray.

Octocog alfa is recombinant coagulation factor VIII. It is defined as recombinant, as it is obtained, in the laboratory, with genetic engineering techniques.

In cases of hemophilia B:

Injections of nonacog alfa are practiced, which is the recombinant coagulation factor IX.

THE PREVENTIVE APPROACH (OR ANTI-EMOFILIA PROPHYLAXIS)

The preventive therapeutic approach is the treatment indicated for moderate and severe haemophilias, as a patient, in these conditions, is subject to frequent bleeding and negative implications. In fact, regular injections of recombinant coagulation factors are practiced, so that the patient's blood always contains a portion ready for use.

In cases of hemophilia A:

Octocog alfa is administered approximately every 48 hours. Prolonged use of these drugs can have side effects, such as: itching, rashes, cramps and redness at the injection site.

In cases of hemophilia B:

Nonacog alfa injections are given at least twice a week. The side effects of prolonged use are rare and consist of: headache, taste changes, nausea and swelling at the injection site.

The preventive approach may require the implantation of a " subcutaneous door ", that is a tube connected directly to the heart, which facilitates injections. In this way, treatment is facilitated on younger patients and vein-related problems are avoided.

TREATMENT FOR HEMOPHILIA C

Hemophilia C therapy deserves a separate discussion. In fact, it does not require special treatment, except on rare occasions, as a surgical operation. In such situations, the patient is injected with either factor XI of recombinant coagulation or fresh frozen plasma .

OTHER TREATMENTS

Antifibrinolytics and blood transfusions complete the therapeutic framework.

Antifibrinolytics .

Given in the form of tablets, these drugs prevent the breakdown of blood clots. They are used when the patient complains of minor blood loss in the mouth or after a tooth extraction. The most widely used antifibrinolytics are: tranexamic acid and aminocaproic acid .

Blood transfusions .

At one time, transfusions of human blood represented not only the remedy for a conspicuous loss of blood, but also the only source of coagulation factors. However, they were not without risks, as the blood could be infected. Hepatitis and HIV, for example, were just some of the possible complications related to contaminated blood transfusions.

Today, things have changed. Medical advances have ensured more effective blood tests, while genetic engineering has provided, with the synthesis of recombinant coagulation factors, a valid, even more adequate alternative. Thanks to the possibilities offered by preventive therapy, less and less use is made of transfusions.

Prognosis and prevention

Today, for the reasons mentioned above, the prognosis for a haemophilia patient is positive. In fact, if the most appropriate therapeutic treatments are put into practice, the patient can lead an almost normal life. Clearly, the most severe forms of the disease require more attention, as the dangers associated with bleeding are greater.

HOW TO PREVENT HEMORRHAGES AND THEIR COMPLICATIONS?

Prevention of bleeding is essential if you want to lead an almost normal life. The most important recommendations made to patients with hemophilia are the following:

  • Regular practice of physical exercise . It is essential to protect their joints from the degenerative effects of internal bleeding, which affect them. Sports or motor activities are recommended where there is no physical contact with other individuals. Therefore, swimming, cycling or running are ideal.
  • Avoid taking drugs with anticoagulant effects, such as aspirin, ibuprofen, heparin or warfarin (Coumadin).
  • Take care of your dental hygiene . Dental care, such as tooth extraction or deep tooth decay, can cause very annoying bleeding in the mouth.
  • Protect your children with knee pads, elbow pads, etc., when they engage in motor activities.