Hemophobia, known as congenital protein deficiency or absence, as bleeding coagulation disease, can now be diagnosed in the womb! What is congenital or recurrent hemofolia disease, are there any treatment techniques? Is hemophilia hereditary? The leader of the Turkish Hemophilia Association Prof. Dr. Bülent Zülfikar gave valuable information about the disease. Here is all you wonder about hemofolia disease on appleelma.com!
HEMOPHILIA CAN BE DIAGNOSED IN THE Womb!
With the aim of raising awareness about hemophilia, a bleeding-coagulation disease that occurs as a result of congenital deficiency or absence of proteins that provide clotting in the blood, and thus enabling the disease to be recognized earlier
Hemophilia is a bleeding-coagulation disease that occurs as a result of a congenital deficiency or absence of proteins that provide clotting in the blood. In individuals with hemophilia, muscle-joint bleeding is the most common, and if good treatment is not followed, it can disrupt the joints and cause disability.
For the two types of hemophilia, Prof. Dr. Bülent Zülfikar gave the following information: “Hamophilia A for Factor VIII deficiency, Hemophilia B for Factor IX deficiency, Low Factor Deficiencies for the deficiency of other factors (such as factor V, VII, X, XI, XIII), and again for the deficiency of the large molecule part of factor VIII. It’s called von Willebrand’s Disease. Hemophilia A and B occur in boys, and girls are carriers. Other variants occur in both boys and girls.”
IT IS SEEN AS A BLEEDING DISORDER!
About hemophilia, a life-long bleeding disease, Prof. Dr. Bülent Zülfikar shared the following data: “About 60% of hemophilia patients also have this disease in previous generations of the family, and these are called familial hemophilia. The remaining 40% are “sporadic type hemophilia” cases that occur as a result of mutations developed in the mother. Although rare, hemophilia can be seen in girls due to a change (mutation) in the gene. Frequency of hemophilia; There is no geographical or ethnic difference.
The increased knowledge of families about the disease and public awareness enable earlier diagnosis of the disease. The incidence of more than 1 hemophilia in one-to-one family, which we have seen more frequently in the past years, is also decreasing. The decrease in consanguineous marriages also contributed to this. Currently, it is claimed that there are 80,000 people with hereditary bleeding disorders along with carriers in Turkey.
CAN BE DIAGNOSED IN WOM!
Prof. Dr. Bülent Zülfikar talked about how hemophilia can be diagnosed in the womb and continued his words as follows: “In order to diagnose hemophilia before birth, the genetic mutation type of the person/child with hemophilia in the family must be known. Subsequently, it can be determined that the baby in the womb is carrier or sick. Today, there is a chance to deliver a disease-free baby with preimplantation studies. In our country, screening tests for hemophilia and other bleeding disorders are not performed before marriage and after delivery.
IS THERE A TREATMENT FOR HEMOPHILIA?
Gene therapy shows promise for patients with hemophilia. Stating that until today, factor VIII or factor IX concentrates produced from plasma collected from healthy individuals have been used in the treatment of hemophilia. Dr. Bülent Zülfikar: “For more than 25 years, these works have been produced and used more abundantly and more faithfully in laboratories with recombinant technologies. However, they are used repeatedly because their residence time in the body is short.
The prophylaxis (protection from bleeding) method, which has been applied in the world for 20 years and in our country for 10 years, especially in order to protect the heavy types from bleeding, requires patients to take these drugs 2-3 times a week. Intravenous administration poses a significant burden, especially for young children. Thanks to the fact that the treatment is covered by the state, all patients can get treatment. However, for adequate maintenance; The need for experienced hemophilia centers and expert teams continues. In addition, gene therapy/transplantation, which is expected to come to the clinic in the near future, is one of the promising treatments.”
