On the occasion of commemorating the “World Day of Hemophilia“The Ministry of Public healththrough the address of Epidemiology He highlighted this disease as the main theme in his weekly epidemiological bulletin.
The hemophilia It is a disorder hemorrhagic hereditary, characterized by the deficiency or absence of factor VIII (hemophilia A) or factor IX (hemophilia B), essential for a coagulation normal blood.
It is a chronic condition linked to chromosome X, which mainly affects men. The man only inherit a copy of this chromosomeif this contains the disease, it is infected.
Women can be carriers and, in some cases, also present symptoms from mild to moderate.
In the hemophilia Him Gen responsible for producing factor VIII, known as Gen F8, is altered. In the hemophilia B, is the Gen F9, responsible for producing factor IX.
The hemophilia It is usually a disease hereditarytransmitted from parents to children. However, in approximately one third of cases of hemophilia A and B, there is no family history.
This is because the hemophilia can arise from a mutation spontaneous of the germ line, that is, when there is an alteration in the DNA of the offspring, but said mutation It is not present in parental DNA but, later, it can be transmitted to the next generation.
This type of alteration Genethics is known as mutation of Novo, therefore, the hemophilia it can’t be done prevent.
It manifests with Frequent hemorrhages From the 6 months of life, articular deformities, continuous bleeding, moderate events to slight of subsequent hemorrhages to traumas or surgeries, or bone deformity due to continuous traumas.
Statistics
Level worldit is estimated that more than 400,000 people live with hemophiliaalthough a significant proportion remains without diagnosisespecially in low and medium income countries.
According to annual report 2023 of the World Federation of Hemophilia (FMH), more than 241,000 people registered with congenital hemorrhagic disorders were reported, of which 84 % presented hemophilia A O B.
In the region of the Americasthere is an unequal distribution in terms of the number of registered cases and access to treatment.
Countries like Brazil, Mexico, Argentina and Colombia concentrate the largest number of registered patients, while, others face significant limitations in coverage and access to replacement therapies.
In the Dominican Republicthe hemophilia affects approximately 548 people, according to the National Registry of Hemophilia. Of these cases, 80 % correspond to hemophilia Type A, which is the most serious way, while 20 % correspond to hemophilia Type B2.
Diagnosis
He diagnosis Early is essential for proper management of the hemophilia.
In severe cases, the disease is usually detected during the first year of lifewhile mild forms may not be evident to later stages.
Laboratory tests, including analysis of blood To measure the levels of factors of coagulationare essential to confirm the diagnosis.
The country ha advanced In the management of this condition, including the implementation of programs for medications high cost and the introduction of prophylactic therapies for prevent bleeding. In addition, initiatives such as the inclusion of children in specialized programs have improved the quality of life of patients.
The essential and central logistical support program (Promise/lime) invested, between 2021 and 2024, the sum of 37,810,960 pesos to replace the treatment In hospitals Robert Reid Cabral and Arturo Grullón to minors with hemophilia.
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Treatments include the use of anticoagulants and antiagueragants such as aspirin.
Donation of blood
On different occasions, the director of the Pan American Health Organization (PAHO), Jarbas Barbosa, motivated the donors of blood Because your contribution give life to those who need it most.
“The availability of blood o Plasma benefits all patients, especially those who need support Transfusion by lifeor periodically. This is the case of patients with falciform anemia or talaasemia, or those with other chronic conditions, such as hemophiliaoncological or immunosuppressed patients, “said Dr. Barbosa.
