Global Hemophilia Care: Data for Action
Authors: J. Michael Soucie
Journal: Annals of Internal Medicine (2019)

Editorials15 October 2019Global Hemophilia Care: Data for ActionJ. Michael Soucie, PhDJ. Michael Soucie, PhDNational Center on Birth Defects and Developmental Disabilities of the Centers for Disease Control and Prevention and Synergy America, Atlanta, Georgia (J.M.S.)Author, Article, and Disclosure Informationhttps://doi.org/10.7326/M19-2535 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Hemophilia results when mutations in either of the genes that code for the coagulant proteins factor VIII or factor IX cause abnormal blood clotting. Because these genes are located on the X chromosome, hemophilia is a sex-linked disorder that manifests primarily in males, but it can also affect females who carry the genetic defect. Variations in the mutations causing the disorder result in different levels of the affected protein, which influences bleeding tendency. The most severely affected patients have repeated bleeding, primarily into large joints, that causes chronic and disabling joint disease. Bleeding into organs and intracranial hemorrhages can lead ...References1. Jones PK, Ratnoff OD. The changing prognosis of classic hemophilia (factor VIII "deficiency"). Ann Intern Med. 1991;114:641-8. [PMID: 2003710] LinkGoogle Scholar2. Evatt BL. The natural evolution of haemophilia care: developing and sustaining comprehensive care globally. Haemophilia. 2006;12 Suppl 3:13-21. [PMID: 16683992] CrossrefMedlineGoogle Scholar3. Mahlangu J, Cerquiera M, Srivastava A. Emerging therapies for haemophilia - global perspective. Haemophilia. 2018;24 Suppl 6:15-21. [PMID: 29878661] doi:10.1111/hae.13510 CrossrefMedlineGoogle Scholar4. Iorio A, Stonebraker JS, Chambost H, et al. 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. doi:10.7326/M19-1208 LinkGoogle Scholar5. Evatt BL. Observations from Global Survey 2001: an emerging database for progress. Haemophilia. 2002;8:153-6. [PMID: 11952853] CrossrefMedlineGoogle Scholar6. Soucie JM, Evatt B, Jackson D; Hemophilia Surveillance System Project Investigators. Occurrence of hemophilia in the United States. Am J Hematol. 1998;59:288-94. [PMID: 9840909] CrossrefMedlineGoogle Scholar7. Soucie JM, McAlister S, McClellan A, et al. The universal data collection surveillance system for rare bleeding disorders. Am J Prev Med. 2010;38:S475-81. [PMID: 20331946] doi:10.1016/j.amepre.2009.12.023 CrossrefMedlineGoogle Scholar8. Manco-Johnson MJ, Byams VR, Recht M, et al; U.S. Haemophilia Treatment Center Network. Community counts: evolution of a national surveillance system for bleeding disorders [Letter]. Am J Hematol. 2018;93:E137-40. [PMID: 29473207] doi:10.1002/ajh.25076 CrossrefMedlineGoogle Scholar9. Evatt B. Guide to Developing a National Patient Registry. Montreal: World Federation of Hemophilia; 2005. Google Scholar10. Skinner MW. WFH: closing the global gap—achieving optimal care. Haemophilia. 2012;18 Suppl 4:1-12. [PMID: 22726075] doi:10.1111/j.1365-2516.2012.02822.x CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: National Center on Birth Defects and Developmental Disabilities of the Centers for Disease Control and Prevention and Synergy America, Atlanta, Georgia (J.M.S.)Disclaimer: The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention.Disclosures: The author has disclosed no conflicts of interest. The form can be viewed at www.acponline.org/authors/icmje/ConflictOfInterestForms.do?msNum=M19-2535.Corresponding Author: J. Michael Soucie, PhD, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E64, Atlanta, GA 30333; e-mail, [email protected]gov.This article was published at Annals.org on 10 September 2019. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoEstablishing the Prevalence and Prevalence at Birth of Hemophilia in Males Alfonso Iorio , Jeffrey S. Stonebraker , Hervé Chambost , Michael Makris , Donna Coffin , Christine Herr , Federico Germini , and Metrics Cited byAssessment of the clinical perception, quality of life and satisfaction of patients with severe congenital haemophilia A without inhibitor after 1 year of emicizumab therapyAssessment of quality of life by functional independence score in hemophilic patients: a single-center experienceAdapting to (co)exist: experience of men with hemophilia in southern Brazil 15 October 2019Volume 171, Issue 8Page: 585-586KeywordsHealth careHealth information technologyHemophiliaHemorrhageMedical risk factorsMutationPatient advocacyPopulation statisticsProteinsX chromosomes ePublished: 10 September 2019 Issue Published: 15 October 2019 PDF downloadLoading ...