Diagnosis
It is possible to diagnose haemophilia simply from the symptoms, which the patient complains.
GENETIC TESTS AND PREGNANCY
A pregnant woman who has a family history of haemophilia may have her fetus undergo a genetic test to find out whether or not she is a carrier of the disease. However, the execution of the test must be considered and discussed with your doctor, as it involves risks for the child.
Treatment
Unfortunately, being a genetic disease, haemophilia is still incurable.
Nevertheless, today, thanks to medical advances in the field of genetic engineering, the haemophilia patient manages to lead a fairly normal life. Over the years, in fact, the therapeutic program has been enriched with new treatments and improved others. such as blood transfusions, as 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 form of haemophilia affects an individual.
- For individuals with mild haemophilia: An on-demand (i.e., on-demand) therapeutic approach is used.
- For individuals with moderate to severe haemophilia: a preventive or prophylactic therapeutic approach is used.
THE ON DEMAND APPROACH
The term on-demand means that the treatment is given to the patient only in the event of a "prolonged bleeding in progress."
In cases of haemophilia A:
It intervenes with injections of desmopressin (DDAVP) or octocog alfa.
Desmopression is a synthetic hormone, which stimulates the release and greater permanence in the circulation of coagulation factor VIII. In addition to intravenously, desmopressin is also administered in the form of a nasal spray.
Octocog alfa is recombinant coagulation factor VIII. It is defined recombinant as it is obtained in the laboratory using genetic engineering techniques.
In cases of haemophilia B:
Injections of nonacog alfa, which is recombinant coagulation factor IX, are given.
THE PREVENTIVE APPROACH (OR ANTI-HEMOPHILIC PROPHYLAXIS)
The preventive therapeutic approach is the indicated treatment for moderate and severe haemophilias, as a patient, in these conditions, is subject to frequent bleeding and with 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 haemophilia A:
Octocog alfa is administered approximately every 48 hours. Prolonged use of these drugs can have side effects, such as: itching, skin rashes, cramps and redness at the injection site.
In cases of haemophilia B:
Injections of nonacog alfa are given at least twice a week. 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 port", ie a tube connected directly to the heart, which facilitates injections. In this way, treatment on younger patients is facilitated and problems associated with finding the vein are avoided.
THE TREATMENT FOR HEMOPHILIA C
The therapy of hemophilia C deserves a separate discussion. In fact, it does not require special treatments, except on rare occasions, such as a "surgical operation." In such situations, the patient is injected with either recombinant coagulation factor XI or fresh frozen plasma.
OTHER TREATMENTS
Antifibrinolytics and blood transfusions complete the therapeutic picture.
Antifibrinolytics.
Given in the form of lozenges, these drugs prevent blood clots from breaking down. They are used when the patient complains of small bleeding in the mouth or after a dental extraction. The most used antifibrinolytics are: tranexamic acid and aminocaproic acid.
Blood transfusions.
At one time, human blood transfusions were not only the remedy for conspicuous blood loss, but also the only source of clotting factors. However, they were not without risk, as the blood could be infected. Hepatitis and HIV. , for example, they were just some of the possible complications associated with transfusions of contaminated blood.
Today, things have changed. Advances in medicine have ensured more effective blood controls, while genetic engineering has provided, with the synthesis of recombinant coagulation factors, a valid and even more adequate alternative. Thanks to the possibilities offered by preventive therapy, less and less use is made of "use of transfusions.
Prognosis and prevention
Today, for the reasons mentioned above, the prognosis for a patient with haemophilia is positive. In fact, if the most appropriate therapeutic treatments are put into practice, the patient can lead an almost normal life. Clearly, the more severe forms of the disease require more attention, as the dangers associated with bleeding are greater.
HOW TO PREVENT HEMORRAGES 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 haemophilia, are the following:
- Regular practice of physical exercise. It is essential to protect your joints from the degenerative effects of internal bleeding, which affect them. Sports or motor activities are recommended in which physical contact with other individuals is not foreseen. Therefore, swimming, cycling or running are ideal.
- Avoid taking medications with anticoagulant effects, such as aspirin, ibuprofen, heparin, or warfarin (Coumadin).
- Take care of your dental hygiene. Dental care, such as tooth extraction or treatment of deep caries, can cause very annoying bleeding in the mouth.
- Protect your children with knee pads, elbow pads, etc., when they engage in motor activities.
