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Hemophilia is a genetic and hereditary disease, that is, it is passed from parents to children, characterized by prolonged bleeding due to deficiency or decreased activity of factors VIII and IX in the blood, which are essential for coagulation.
Thus, when there are changes related to these enzymes, it is possible that there are bleeds, which can be internal, with bleeding gums, nose, urine or feces, or bruises on the body, for example.
Although there is no cure, hemophilia has treatment, which is done with periodic injections with the clotting factor that is missing in the body, to prevent bleeding or whenever there is bleeding, which needs to be resolved quickly. Understand how the treatment for hemophilia should be.
Types of hemophilia
Hemophilia can happen in 2 ways, which, despite having similar symptoms, are caused by a lack of different blood components:
- Hemophilia A: is the most common type of hemophilia, being characterized by deficiency in coagulation factor VIII;
- Hemophilia B: causes changes in the production of coagulation factor IX, also known as Christmas disease.
Coagulation factors are proteins present in the blood, which are activated whenever the blood vessel ruptures, so that the bleeding is contained. Therefore, people with hemophilia suffer from bleeding that takes much longer to be controlled.
There are deficiencies in other coagulation factors, which also cause bleeding and can be confused with hemophilia, such as factor XI deficiency, popularly known as type C hemophilia, but which differs in the type of genetic alteration and form of transmission.
Hemophilia symptoms
Symptoms of hemophilia can be identified logos in the baby's first years of life, however they can also be identified during puberty, adolescence or adulthood, especially in cases where hemophilia is related to decreased activity of clotting factors. Thus, the main signs and symptoms that may be indicative of hemophilia are:
- Appearance of purple spots on the skin;
- Swelling and pain in the joints;
- Spontaneous bleeding, for no apparent reason, as in the gum or nose, for example;
- Bleeding during the birth of the first teeth;
- Bleeding difficult to stop after a simple cut or surgery;
- Wounds that take a long time to heal;
- Excessive and prolonged menstruation.
The more severe the type of hemophilia, the greater the number of symptoms and the sooner they appear, therefore, severe hemophilia is usually discovered in the baby, during the first months of life, while moderate hemophilia is usually suspected around the 5 years old, or when the child starts to walk and play.
Mild hemophilia, on the other hand, can only be discovered in adulthood, when the person suffers a strong blow or after procedures such as tooth extraction, in which bleeding is noted above normal.
How to confirm the diagnosis
The diagnosis of hemophilia is made after evaluation by the hematologist, who requests tests that assess the blood's clotting ability, such as the clotting time, which checks the time it takes for the blood to form a clot, and the measurement of the presence of factors clotting and their blood levels.
Clotting factors are essential blood proteins, which come into play when there is some bleeding, to allow it to stop. The absence of any of these factors causes disease, as in type A hemophilia, which is caused by the absence or decrease of factor VIII, or type B hemophilia, in which factor IX is deficient. Understand how coagulation works.
Common questions about hemophilia
Some common questions about hemophilia are:
1. Is hemophilia more common in men?
Hemophilia deficient coagulation factors are present on the X chromosome, which is unique in men and duplicated in women. Thus, to have the disease, the man only needs to receive 1 affected X chromosome, from the mother, whereas for a woman to develop the disease, he needs to receive the 2 affected chromosomes, and, therefore, the disease is more common in men.
If the woman has only 1 affected X chromosome, inherited from either parent, she will be a carrier, but will not develop the disease, as the other X chromosome compensates for the disability, however, she has a 25% chance of having a child with this disease.
2. Is hemophilia always hereditary?
In about 30% of hemophilia cases there is no family history of the disease, which may be the result of a spontaneous genetic mutation in the person's DNA. In this case, it is considered that the person has acquired hemophilia, but that he can still transmit the disease to his children, just like anyone else with hemophilia.
3. Is hemophilia contagious?
Hemophilia is not contagious, even if there is direct contact with the blood of a carrier person or even a transfusion, as this does not interfere with the formation of each person's blood through the bone marrow.
4. Can the person with hemophilia live a normal life?
When taking preventive treatment, with the replacement of clotting factors, the person with hemophilia can have a normal life, including playing sports.
In addition to treatment to prevent accidents, treatment can be done when there is bleeding, through the injection of clotting factors, which facilitates blood clotting and prevents serious bleeding, being done according to the guidance of the hematologist.
In addition, whenever the person is going to do some type of surgical procedure, including dental extractions and fillings, for example, it is necessary to make doses for prevention.
5. Who has hemophilia can take ibuprofen?
Medicines such as Ibuprofen or that have acetylsalicylic acid in their composition should not be ingested by people diagnosed with hemophilia, as these medications can interfere with the blood clotting process and favor the occurrence of bleeding, even if the clotting factor has been applied.
6. Can the person with hemophilia get tattoos or surgery?
The person diagnosed with hemophilia, regardless of type and severity, can get tattoos or surgical procedures, however the recommendation is that you communicate your condition to the professional and administer the coagulant factor before the procedure, avoiding major bleeding, for example.
In addition, in the case of getting tattoos, some people with hemophilia reported that the healing process and pain after the procedure were less when they applied the factor before getting the tattoo. It is also essential to look for an establishment regularized by ANVISA, clean and with sterile and clean materials, avoiding any risk of complications.