Affiliation:
1. Pirogov Russian National Research Medical University
Abstract
April 17 marks World Hemophilia Day. The date is dedicated to the birthday of Frank Schnabel, the founder of the World Federation of Hemophilia. And on this day and on other days, the medical community is called upon to draw attention to the problems of people suffering from blood clotting disorders — one of the central ones in hematology. Hemophilia, although one of the most common genetically determined blood coagulation disorders, is considered a RARE (orphan) disease. The disease manifests itself in early childhood, clinically has two of the most common variants of the disease: hemophilia A and hemophilia B. Diagnosis requires mandatory laboratory confirmation of the genetic absence or decrease in the concentration of FVIII for hemophilia A and FIX for hemophilia B. In recent years, the introduction of domestic recombinant coagulation factors into practice has made it possible to significantly optimize replacement therapy in children with hemophilia, and in the context of increasing Western sanctions, to ensure children of Russia with the necessary means of urgent care and prevention, which are not inferior to the best foreign analogues. New therapy principles that are actually changing the principles of treatment include non-factor drugs and gene therapy options for both hemophilia A and hemophilia B.
Publisher
The National Academy of Pediatric Science and Innovation
Subject
Pediatrics, Perinatology and Child Health
Reference26 articles.
1. Rumyantsev A.G., Rumyantsev S.A., Chernov V.M. Hemophilia in the practice of doctors of various specialties. M.: GEOTAR-Media, 2012: 140 p. (in Russ.)
2. Kizilocak H., Young G. Diagnosis and Treatment of Hemophilia. Clin Advanc Hematol Oncol 2019; 17(6). https:// www.hematologyandoncology.net/archives/june-2019/diagnosis-and-treatment-of-hemophilia / Ссылка активна на 20.04.2023
3. Beskorovainaya T.S., Abrukova A.V., Mironovich O.L., Bliznets E.A., Milovidova T. B., Shchagina O.A. et al. Skewed X-chromosome inactivation in heterozygous female with moderate hemophilia A. Gematologiya i transfuziologiya 2018; 63(1): 184–190. (in Russ.) DOI: 10.25837/HAT.2018.79.2.009
4. Galstyan G.M., Nalbandyan S.A., Sabirov K.R., Soboleva O.A., Kovalenko A.V., Gorgidze L.A., Zorenko V.Yu. Tactics of treatment of a patient with acquired hemophilia: continuous infusion of recombinant activated coagulation factor VII and eradication of the inhibitor. Gematologiya i transfuziologiya 2022; 67(2): 282–294. (in Russ.) DOI: 10.35754/0234–5730–2022–67–2–282–294
5. Delyagin V. Genetically determined deficiency of clotting factors and opportunities of modern substitutional therapy. Vrach 2021; 32 (7): 11–16. (in Russ.) DOI: 10.29296/25877305–2021–07–02