Hemophilia: what it is, types and severity

Hemophilia is a genetic and hereditary disease, that is, it is passed from parents to children, characterized by causing a greater risk of prolonged bleeding, which can be external, with wounds and cuts that do not stop bleeding, or internal, with bleeding gums, on the nose, urine or stools, or bruises on the body, for example.

This happens because the person with hemophilia is born with a deficiency or low activity of Factor VIII or Factor IX in the blood, which are essential for coagulation, caused by genetic alterations that interfere in the production of these proteins and give rise to type A or hemophilia. type B.

Although there is no cure, this disease 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. Find out more details on how hemophilia treatment is performed.

1. There are 2 types of hemophilia.

TRUTH. 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 factor VIII of coagulation; 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.

2. Hemophilia is more common in men.

TRUTH. 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, while for a woman to develop the disease, she needs to receive the 2 affected chromosomes, from the father and mother, which is more difficult.

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.

3. Hemophilia is always hereditary.

MYTH. 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.

4. Hemophilia is contagious.

MYTH. 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.

5. The blood test confirms hemophilia.

TRUTH. The diagnosis of hemophilia is made by the hematologist, who requests tests that assess blood clotting and components, such as clotting time, the existence of clotting factors and the amount of these factors in the blood, and the assessment should be made whenever there is a history of easy bleeding, or for no apparent reason.

This diagnosis can be made at any age, and can even be done in the maternal uterus, with the extraction of biopsy samples from chorionic villi, amniocentesis or cordocentesis, through which the child's DNA analysis can be done.

6. Hemophilia is always severe.

MYTH. There are 3 stages for hemophilia, according to the severity of blood changes and bleeding:

Mild haemophilia: in which the function of clotting factors is only reduced (activity between 5 and 40%), and has little risk of bleeding, more present in situations of surgery, accidents or tooth extraction, for example; Moderate haemophilia: there is a significant decrease in clotting factors (activity between 2 and 5%), being more likely to have spontaneous bleeding, such as the appearance of intramuscular or joint hematoma, for example; Severe haemophilia: clotting factors are practically absent (activity less than 1%), and there is a high chance of bleeding, mainly in the skin, joints and muscles, due to the blows or spontaneously, which happen about 2 to 5 times a month.

The more severe the hemophilia, the sooner it is usually discovered, and, generally, people with mild hemophilia can only discover the disease in adulthood, or not at all, while moderate hemophilia is diagnosed in children around 6 years of age. age and severe hemophilia is usually discovered in the first months of life.

7. The person with hemophilia can lead a normal life.

TRUTH. Nowadays, 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.

8. Hemophilia became known as a disease of kings.

TRUTH. This disease was very common in European royal families, as marriage between family members was common, which increases the chances of the affected genes being transmitted over the generations.

The first report of this disease was in a Russian imperial family, of the Romanov Dynasty, where the legend originated that the healer Rasputin cured the heir to the throne, Prince Alexei, which is only a legend, as there is still no cure. for hemophilia.

9. Hemophiliacs should not take Ibuprofen.

TRUTH. Medicines such as Ibuprofen or that have acetylsalicylic acid in their composition should not be ingested by people diagnosed with hemophilia, as these drugs can interfere with the blood clotting process and favor the occurrence of bleeding, even if the clotting factor has been applied.

10. The person with hemophilia cannot have children.

MYTH. People diagnosed with hemophilia, whether male or female, may have children, however there are a few things to consider before planning a pregnancy, such as:

The chance of having a hemophiliac child, which is usually around 50% when one parent is hemophiliac; The consequences of the disease for the child; How is hemophilia treatment and the associated costs; How should pregnancy planning be and childbirth in order to reduce the risks for both the mother, if hemophilic, and the baby.

Based on the parents' assessment of these factors, pregnancy can be planned if this is the will. However, in most cases, the couple chooses to adopt a child or perform IVF techniques, such as:

In vitro fertilization with pre-implantation diagnosis, in which the woman's eggs are fertilized with the partner's sperm and in the first stage of development, the embryos are analyzed and only those that do not have the hemophilia gene are implanted in the woman's uterus; In vitro fertilization with eggs donated by a healthy woman who does not have hemophilia, ensuring that the child does not have hemophilia and does not carry the gene.

In addition to these techniques, it can be chosen to make a sperm selection, that is, from the analysis of the male sperm, sperm that have only one X chromosome are chosen, ensuring that a female child will be generated who may or may not be a carrier hemophilia. The harvested sperm is fertilized and replanted in the uterus.

11. Hemophiliacs cannot get tattoos or surgery.

MYTH. The person diagnosed with hemophilia, regardless of type and severity, can get tattoos or surgical procedures, however the recommendation is to 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.