What is Hemophilia: Symptoms, Causes, Diagnosis, Drugs for Treatment and Prevention

Unfortunately, as it is a genetic disease, hemophilia is still incurable.
Nonetheless, today, thanks to medical advances in the field of genetic engineering, the haemophilia patient is able 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 form of hemophilia affecting an individual is.

• For individuals with mild hemophilia: a on-demand therapeutic approach (i.e. on request).
• For individuals with moderate-severe hemophilia: a preventive therapeutic approach you hate prophylaxis.

THE ON DEMAND APPROACH

The term on-demand means that the treatment is administered to the patient only when there is ongoing prolonged bleeding.

In cases of haemophilia A:
It is intervened with injections of desmopressin (DDAVP) you hate octocog alpha.
Desmopressure is a synthetic hormone, which stimulates the release and longer retention of coagulation factor VIII in the circulation. In addition to the intravenous route, desmopressin is also administered in the form of a nasal spray.
Octocog alfa is recombinant coagulation factor VIII. It is defined as recombinant, as it is obtained in the laboratory using genetic engineering techniques.

In cases of haemophilia B:
Injections are given nonacog alphawhich is recombinant coagulation factor IX.

THE PREVENTIVE APPROACH (OR ANTI-HAEMOPHILIA PROPHYLAXIS)

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

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:

Nonacog alfa injections 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“, that is, a small tube connected directly to the heart, which facilitates injections. In this way, treatment on younger patients is facilitated and problems associated with searching for the vein are avoided.

TREATMENT FOR HEMOPHILIA C

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

OTHER TREATMENTS

Antifibrinolytics and blood transfusions complete the therapeutic picture.

Antifibrinolytics.

Administered as tablets, these drugs prevent blood clots from breaking down. They are used when the patient complains of small blood losses in the mouth or after a tooth extraction. The most used antifibrinolytics are:tranexamic acid el’aminocaproic acid.

Blood transfusions.

At one time, human blood transfusions represented not only the remedy for significant blood loss, but also the only source of clotting factors. However, they were not risk-free, as the blood could be infected. Hepatitis and HIV, for example, were just some of the possible complications linked to transfusions of contaminated blood.
Today, things have changed. Medical advances have guaranteed more effective blood controls, 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, the use of transfusions is becoming less and less common.

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 more serious forms of the disease require greater attention, as the dangers linked to 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 your joints from the degenerative effects of internal hemorrhages that affect them. Sports or physical activities that do not involve physical contact with other individuals are recommended. Therefore, swimming, cycling or running are ideal.
• Avoid taking drugs with effects anticoagulantssuch as aspirin, ibuprofen, heparin, or warfarin (Coumadin).
• Take care of your own dental care. Dental treatments, such as extracting a tooth or treating a deep cavity, can cause very uncomfortable bleeding in the mouth.
• Protect your children with knee pads, elbow pads, etc., when they engage in physical activities.