Hemophilia in Children - Modern Paradigms of Treatment and Prevention
Keywords:
children, hemophilia, inhibitor, substitution therapy, non-factorial drugsAbstract
World Hemophilia Day is celebrated on April 17. The date is timed to coincide with the birthday of Frank Schneibel, founder of the World Hemophilia Federation. Both 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 problems in hematology. Although hemophilia is one of the most common genetically determined disorders of blood clotting, it is considered a rare (orphan) disease. The disease manifests itself in early childhood, has clinically the two most common variants of the disease: hemophilia A and hemophilia B. Diagnosis requires mandatory genetic confirmation or laboratory confirmation of a decrease in the concentration of factor VIII for hemophilia A and factor IX for hemophilia B. The introduction of domestic recombinant coagulation factors in recent years has made it possible to significantly optimize replacement therapy in children with hemophilia, and in the face of growing Western sanctions, to provide Russian children with the necessary urgent care and prevention tools that are not inferior to the best foreign analogues. New principles of therapy that radically change management include non-active drugs and gene therapy options for both hemophilia Aand hemophilia B.
References
S. S. Acharya, «Advances in hemophilia and the role of current and emerging prophylaxis», Am. J. Manag. Care, т. 22, вып. 5 Suppl, сс. s116-125, 2016.
G. Benson и др., «Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management», Blood Transfus., т. 16, вып. 6, сс. 535–544, 2018, doi: 10.2450/2017.0150-17.
M. Franchini и P. M. Mannucci, «The more recent history of hemophilia treatment», Semin. Thromb. Hemost., т. 48, вып. 8, сс. 904–910, 2022.
K. I. Grigoriev, L. A. Kharitonova, и T. G. Plakhuta, «Hemophilia in children - modern paradigms of treatment and prevention», Russ. Bull. Perinatol. Pediatr., т. 68, вып. 3, сс. 107–116, 2023.
U. Hedner, D. Ginsburg, J. M. Lusher, и K. A. High, «Congenital hemorrhagic disorders: new insights into the pathophysiology and treatment of hemophilia», ASH Educ. Program Book, т. 2000, вып. 1, сс. 241–265, 2000.
G. Kenet, A. K. C. Chan, J. M. Soucie, и R. Kulkarni, «Bleeding disorders in neonates», Haemophilia, т. 16, вып. Suppl 5, сс. 168–175, 2010.
R. C. Ljung, «Prevention and management of bleeding episodes in children with hemophilia», Pediatr. Drugs, т. 20, вып. 5, сс. 455–464, 2018.
Ministry of Health of the Russian Federation, «Russian clinical guidelines for the diagnosis and treatment of patients with hemophilia». 2020 г. [Онлайн]. Доступно на: https://cr.rosminzdrav.ru/schema/127
Ministry of Health of the Russian Federation, Hemophilia. Clinical guidelines. Moscow, 2023.
MSZ RF, Federal clinical guidelines for the diagnosis and treatment of children with hemophilia A, Hemophilia B and Willebrand’s disease. Moscow, 2015.
J. Oldenburg и др., «Emicizumab Prophylaxis in Hemophilia A with Inhibitors», N. Engl. J. Med., т. 377, сс. 809–818, 2017, doi: 10.1056/NEJMoa1703068.
K. Roshni и J. M. Soucie, «Pediatric hemophilia: a review», Semin. Thromb. Hemost., т. 37, вып. 7, сс. 737–744, 2011, doi: 10.1055/s-0031-1297164.
K. van Dijk, J. G. van der Bom, K. N. Bax, D. C. van der Zee, и M. H. van den Berg, «Use of implantable venous access devices in children with severe hemophilia: benefits and burden», Haematologica, т. 89, вып. 2, сс. 189–194, 2004.
Acharya, S. S. (2016). Advances in hemophilia and the role of current and emerging prophylaxis. Am J Manag Care, 22(5 Suppl), s116-25.
Franchini, M., & Mannucci, P. M. (2022, November). The more recent history of hemophilia treatment. In Seminars in Thrombosis and Hemostasis (Vol. 48, No. 08, pp. 904-910). Thieme Medical Publishers, Inc..