Abstract
Hemophilia A, B are X-linked recessive bleeding disorder that typically results from a deficiency of clotting factor VIII (FVIII) and factor IX (FIX). The severity of the disease is determined according to the FVIII and FIX levels. Hemophilia A and B have similar symptoms and are both characterized by bleeding, particularly in large joints such as ankles, knees, elbows. Recurrent bleeding in joints eventually causes progressive hemophilic arthropathy. Life-threatening hemorrhages may occur rarely. Treatment of hemophilia has improved significantly in recent years with clotting factor concentrates. The average life expectancy was <40 years until the 1960s, but with better accessing clotting factor concentrates and prophylactic replacement of the missing factor, today hemophilia patients can perform social activities like other healthy individuals and live with an almost normal life expectancy. The future of hemophilia seems bright with gene therapy and new non-replacement treatments.
References
- Iorio A, Stonebraker JS, Chambost H, et al. Data and Demographics Committee of the World Federation of Hemophilia. Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registries. Ann Intern Med. 2019; 171: 540-6.
- Fischer K, Ljung R, Platokouki H, et al. Prospective observational cohort studies for studying rare diseases: the European PedNet Haemophilia Registry. Haemophilia 2014; 20: e280-6.
- Tamura A, Shinozawa K, Uemura S, et al. Early elevation of factor IX level in Japanese brothers with Haemophilia B Leyden who are carrying c. -35 g > a mutations in the promoter region of F9. Haemophilia 2021; 27: e510-2.
- Miller CH, Bean CJ. Genetic causes of haemophilia in women and girls. Haemophilia 2021; 27: e164-79.
- Davies J, Kadir RA. Mode of delivery and cranial bleeding in newborns with haemophilia: a systematic review and meta-analysis of the literature. Haemophilia 2016; 22: 32-8.
- Kulkarni R, Soucie JM, Lusher J, et al. Haemophilia Treatment Center Network Investigators. Sites of initial bleeding episodes, mode of delivery and age of diagnosis in babies with haemophilia diagnosed before the age of 2 years: a report from The Centers for Disease Control and Prevention's (CDC) Universal Data Collection (UDC) project. Haemophilia 2009; 15: 1281-90.
- Dunn AL. Pathophysiology, diagnosis and prevention of arthropathy in patients with haemophilia. Haemophilia 2011; 17: 571-8.
- Zwagemaker AF, Gouw SC, Jansen JS, et al. Incidence and mortality rates of intracranial hemorrhage in hemophilia: a systematic review and meta-analysis. Blood 2021; 138: 2853-73.
- Patıroglu T, Özdemir MA, Ünal E, et al. Intracranial hemorrhage in children with congenital factor deficiencies. Childs Nerv Syst 2011; 27: 1963-6.
- Punt MC, Waning ML, Mauser-Bunschoten EP, et al. Maternal and neonatal bleeding complications in relation to peripartum management in hemophilia carriers: A systematic review. Blood Rev 2021; 49: 100826.
- Towner D, Castro MA, Eby-Wilkens E, Gilbert WM. Effect of mode of delivery in nulliparous women on neonatal intracranial injury. N Engl J Med 1999; 341: 1709-14.
- Hoots W. Keith, Shapiro AD. Clinical manifestations and diagnosis of hemophilia. In: UpToDate, Lawrence LK Leung (Ed), UpToDate, Waltham, MA. (Accessed on March 04, 2022.)
- Marlar RA, Strandberg K, Shima M, Adcock DM. Clinical utility and impact of the use of the chromogenic vs one-stage factor activity assays in haemophilia A and B. Eur J Haematol 2020; 104: 3-14.
- Atik T, Işık E, Onay H, et al. Factor 8 gene mutation spectrum of 270 patients with hemophilia a: identification of 36 novel mutations. Turk J Haematol 2020; 37: 145-53.
- Berntorp E, Fischer K, Hart DP, et al. Haemophilia. Nat Rev Dis Primers 2021; 7: 45.
- Ninivaggi M, de Laat-Kremers R, Tripodi A, et al. Recommendations for the measurement of thrombin generation: Communication from the ISTH SSC Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibodies. J Thromb Haemost 2021; 19: 1372-8.
- Duncan E, Collecutt M, Street A. Nijmegen-Bethesda assay to measure factor VIII inhibitors. Methods Mol Biol 2013; 992: 321-33.
- Peyvandi F, Mannucci PM, Garagiola I, et al. A randomized trial of factor viii and neutralizing antibodies in hemophilia A. N Engl J Med 2016; 374: 2054-64.
- Sande CM, Al-Huniti A, Ten Eyck P, Sharathkumar AA. Impact of the Survey of Inhibitors in Plasma-Product Exposed Toddlers (SIPPET) study and its post hoc analyses on clinical practice in the United States: A survey of Haemophilia and Thrombosis Research Society members. Haemophilia 2019; 25: 764-72.
- Franchini M, Mannucci PM. Inhibitor eradication with rituximab in haemophilia: where do we stand? Br J Haematol 2014; 165: 600-8.
- Jiménez-Yuste V, Auerswald G, et al. Practical considerations for nonfactor-replacement therapies in the treatment of haemophilia with inhibitors. Haemophilia 2021; 27: 340-50.
- Hartmann R, Feenstra T, Valentino L, Dockal M, Scheiflinger F. In vitro studies show synergistic effects of a procoagulant bispecific antibody and bypassing agents. J Thromb Haemost 2018.
- Pasi KJ, Rangarajan S, Georgiev P, et al. Targeting of antithrombin in hemophilia A or B with RNAi therapy. N Engl J Med 2017; 377: 819-28.
- Peterson JA, Maroney SA, Mast AE. Targeting TFPI for hemophilia treatment. Thromb Res 2016; 141: S28-30.
- George LA. Hemophilia gene therapy: ushering in a new treatment paradigm? Hematology Am Soc Hematol Educ Program 2021; 2021: 226-33.
- Nathwani AC, Reiss U, Tuddenham E, et al. Adeno-associated mediated gene transfer for hemophilia b:8 year follow up and impact of removing "empty viral particles" on safety and efficacy of gene transfer. Blood 2018; 132: 491.
- Srivastava A, Santagostino E, Dougall A, et al. WFH Guidelines for the Management of Hemophilia panelists and co-authors. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia 2020; 26: 1-158.
Abstract
References
- Iorio A, Stonebraker JS, Chambost H, et al. Data and Demographics Committee of the World Federation of Hemophilia. Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registries. Ann Intern Med. 2019; 171: 540-6.
- Fischer K, Ljung R, Platokouki H, et al. Prospective observational cohort studies for studying rare diseases: the European PedNet Haemophilia Registry. Haemophilia 2014; 20: e280-6.
- Tamura A, Shinozawa K, Uemura S, et al. Early elevation of factor IX level in Japanese brothers with Haemophilia B Leyden who are carrying c. -35 g > a mutations in the promoter region of F9. Haemophilia 2021; 27: e510-2.
- Miller CH, Bean CJ. Genetic causes of haemophilia in women and girls. Haemophilia 2021; 27: e164-79.
- Davies J, Kadir RA. Mode of delivery and cranial bleeding in newborns with haemophilia: a systematic review and meta-analysis of the literature. Haemophilia 2016; 22: 32-8.
- Kulkarni R, Soucie JM, Lusher J, et al. Haemophilia Treatment Center Network Investigators. Sites of initial bleeding episodes, mode of delivery and age of diagnosis in babies with haemophilia diagnosed before the age of 2 years: a report from The Centers for Disease Control and Prevention's (CDC) Universal Data Collection (UDC) project. Haemophilia 2009; 15: 1281-90.
- Dunn AL. Pathophysiology, diagnosis and prevention of arthropathy in patients with haemophilia. Haemophilia 2011; 17: 571-8.
- Zwagemaker AF, Gouw SC, Jansen JS, et al. Incidence and mortality rates of intracranial hemorrhage in hemophilia: a systematic review and meta-analysis. Blood 2021; 138: 2853-73.
- Patıroglu T, Özdemir MA, Ünal E, et al. Intracranial hemorrhage in children with congenital factor deficiencies. Childs Nerv Syst 2011; 27: 1963-6.
- Punt MC, Waning ML, Mauser-Bunschoten EP, et al. Maternal and neonatal bleeding complications in relation to peripartum management in hemophilia carriers: A systematic review. Blood Rev 2021; 49: 100826.
- Towner D, Castro MA, Eby-Wilkens E, Gilbert WM. Effect of mode of delivery in nulliparous women on neonatal intracranial injury. N Engl J Med 1999; 341: 1709-14.
- Hoots W. Keith, Shapiro AD. Clinical manifestations and diagnosis of hemophilia. In: UpToDate, Lawrence LK Leung (Ed), UpToDate, Waltham, MA. (Accessed on March 04, 2022.)
- Marlar RA, Strandberg K, Shima M, Adcock DM. Clinical utility and impact of the use of the chromogenic vs one-stage factor activity assays in haemophilia A and B. Eur J Haematol 2020; 104: 3-14.
- Atik T, Işık E, Onay H, et al. Factor 8 gene mutation spectrum of 270 patients with hemophilia a: identification of 36 novel mutations. Turk J Haematol 2020; 37: 145-53.
- Berntorp E, Fischer K, Hart DP, et al. Haemophilia. Nat Rev Dis Primers 2021; 7: 45.
- Ninivaggi M, de Laat-Kremers R, Tripodi A, et al. Recommendations for the measurement of thrombin generation: Communication from the ISTH SSC Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibodies. J Thromb Haemost 2021; 19: 1372-8.
- Duncan E, Collecutt M, Street A. Nijmegen-Bethesda assay to measure factor VIII inhibitors. Methods Mol Biol 2013; 992: 321-33.
- Peyvandi F, Mannucci PM, Garagiola I, et al. A randomized trial of factor viii and neutralizing antibodies in hemophilia A. N Engl J Med 2016; 374: 2054-64.
- Sande CM, Al-Huniti A, Ten Eyck P, Sharathkumar AA. Impact of the Survey of Inhibitors in Plasma-Product Exposed Toddlers (SIPPET) study and its post hoc analyses on clinical practice in the United States: A survey of Haemophilia and Thrombosis Research Society members. Haemophilia 2019; 25: 764-72.
- Franchini M, Mannucci PM. Inhibitor eradication with rituximab in haemophilia: where do we stand? Br J Haematol 2014; 165: 600-8.
- Jiménez-Yuste V, Auerswald G, et al. Practical considerations for nonfactor-replacement therapies in the treatment of haemophilia with inhibitors. Haemophilia 2021; 27: 340-50.
- Hartmann R, Feenstra T, Valentino L, Dockal M, Scheiflinger F. In vitro studies show synergistic effects of a procoagulant bispecific antibody and bypassing agents. J Thromb Haemost 2018.
- Pasi KJ, Rangarajan S, Georgiev P, et al. Targeting of antithrombin in hemophilia A or B with RNAi therapy. N Engl J Med 2017; 377: 819-28.
- Peterson JA, Maroney SA, Mast AE. Targeting TFPI for hemophilia treatment. Thromb Res 2016; 141: S28-30.
- George LA. Hemophilia gene therapy: ushering in a new treatment paradigm? Hematology Am Soc Hematol Educ Program 2021; 2021: 226-33.
- Nathwani AC, Reiss U, Tuddenham E, et al. Adeno-associated mediated gene transfer for hemophilia b:8 year follow up and impact of removing "empty viral particles" on safety and efficacy of gene transfer. Blood 2018; 132: 491.
- Srivastava A, Santagostino E, Dougall A, et al. WFH Guidelines for the Management of Hemophilia panelists and co-authors. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia 2020; 26: 1-158.
Details
| Primary Language | English |
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| Subjects | Health Care Administration |
| Journal Section | Review |
| Authors | |
| Publication Date | July 20, 2022 |
| Published in Issue | Year 2022 Volume: 5 Issue: 4 |
Cited By
Intracranial hemorrhage in children with hemophilia
Journal of Translational and Practical Medicine
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