Prevalence and Incidence of Hemophilia in the US
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Pallav Dave
Regulatory Compliance Analyst, Louisville, KY,40223, USA
editor.jddt@gmail.com
Abstract
Hemophilia is a bleeding disorder that occurs because of deficiencies in coagulation proteins. The proteins involved are factor VIII and factor IX. Hemophilia A occurs when there is a deficiency of factor VIII. Hemophilia B, on the other hand, occurs when results when there is a deficiency of factor IX. Hemophilia affects normal blood clotting which is why bleeding is commonly reported in patients who live the disease. Another common problem reported in people with this disorder is joint problems including joint pain and arthropathy. Arthropathy occurs because bleeding is common in the joints. Bleeding in patients living with hemophilia can also happen in tissues and organs. Estimating the number affected by hemophilia in the US is difficult. However, results from epidemiological studies and surveillance data estimate the total number to be between 30,000 to 33,000. The incidence rate of hemophilia is 1 in every 5000 male births. Addressing the disorder is important because the disease is associated with a significant burden. Several comorbidities are associated with hemophilia. They are liver disease, overweight and obesity, and heart disease. Hemophilia is also associated with significant healthcare costs. Clotting factor replacement therapy and prophylaxis are the mainstay treatment strategies for treating hemophilia. Research has shown that the treatment strategies are effective in addressing hemophilia with lower risk of complications.
Keywords:
hemophilia A, hemophilia B, factor VIII, factor IX, replacement therapy, prophylaxis
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References
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4. Soucie JM, Miller CH, Dupervil B, Le B, Buckner TW. Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres. Haemophilia. 2020;26(3):487-93.doi:10.1111/hae.13998
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7. Li N, Sawyer EK, Maruszczyk K, et al., Adult lifetime cost of hemophilia B management in the US: payer and societal perspectives from a decision analytic model. Journal of Medical Economics. 2021;24(1):363-72.doi:10.1080/13696998.2021.1891088
8. Zhou ZY, Koerper MA, Johnson KA, et al., Burden of illness: direct and indirect costs among persons with hemophilia A in the United States. Journal of Medical Economics. 2015;18(6):457-65.doi:10.3111/13696998.2015.1016228
9. Schieve LA, Byams VR, Dupervil B, et al. Evaluation of CDC’s Hemophilia Surveillance Program-Universal Data Collection (1998–2011) and Community Counts (2011–2019), United States. MMWR Surveillance Summaries2020;69(No. SS-5):1–18. doi:10.15585/mmwr.ss6905a1.
10. Soucie JM, Evatt B, Jackson D, Hemophilia Surveillance System Project Investigators. Occurrence of hemophilia in the United States. American Journal of Hematology. 1998 Dec;59(4):288-94.doi:10.1002/(SICI)1096-8652(199812)59:4<288::AID-AJH4>3.0.CO;2-I
11. Fedewa S, Valentino LA, Koo A, Cafuir L, Tran Jr DQ, Antun AG, Kempton CL. Race and Ethnicity Reporting and Representation in Hemophilia Clinical Trials. Blood Advances. 2024: 2024012862.doi:10.1182/bloodadvances.2024012862
12. Kulkarni R, Soucie JM, Evatt B, Hemophilia Surveillance System Project Investigators. Renal disease among males with haemophilia. Haemophilia. 2003;9(6):703-10.doi:10.1046/j.1351-8216.2003.00821.x
13. Knobe K, Berntorp E. Haemophilia and joint disease: pathophysiology, evaluation, and management. Journal of Comorbidity. 2011;1(1):51-9.doi:10.15256/joc.2011.1.2
14. Gooding R, Thachil J, Alamelu J, Motwani J, Chowdary P. Asymptomatic joint bleeding and joint health in hemophilia: a review of variables, methods, and biomarkers. Journal of Blood Medicine. 2021:209-20.doi:10.2147/JBM.S304597
15. Curtis R, Baker J, Riske B, Ullman M, Niu X, Norton K, Lou M, Nichol MB. Young adults with hemophilia in the US: demographics, comorbidities, and health status. American Journal of Hematology. 2015;90:S11-6.doi:10.1002/ajh.24218
16. Gualtierotti R, Solimeno LP, Peyvandi F. Hemophilic arthropathy: current knowledge and future perspectives. Journal of Thrombosis and Haemostasis. 2021;19(9):2112-21.doi:10.1111/jth.15444
17. Wallny TA, Scholz DT, Oldenburg J, Nicolay C, Ezziddin S, Pennekamp PH, Stoffel‐Wagner B, Kraft CN. Osteoporosis in haemophilia–an underestimated comorbidity?. Haemophilia. 2007;13(1):79-84.doi:10.1111/j.1365-2516.2006.01405.x.
18. O’Hara J, Walsh S, Camp C, Mazza G, Carroll L, Hoxer C, Wilkinson L. The impact of severe haemophilia and the presence of target joints on health-related quality-of-life. Health and Quality of Life Outcomes. 2018;16:1-8.doi:10.1186/s12955-018-0908-9
19. Holstein K, Klamroth R, Richards M, Carvalho M, PÉREZ‐GARRIDO R, Gringeri A, European Haemophilia Therapy Standardization Board. Pain management in patients with haemophilia: a European survey. Haemophilia. 2012;18(5):743-52.doi:10.1111/j.1365-2516.2012.02808.x
20. Stromer W, Pabinger I, Ay C, Crevenna R, et al. Pain management in hemophilia: expert recommendations. Wiener KlinischeWochenschrift. 2021; 1:1-5.doi:10.1007/s00508-020-01798-4
21. Siddiqi AA, Ebrahim SH, Soucie JM, Parker CS, Atrash HK. Burden of disease resulting from hemophilia in the US.Am J Prev Med.2010: 38 (4 supl): S482-8.doi:10.1016/j.amepre.2009.12.016
22. Wilding J, Zourikian N, Di Minno M, et al. Obesity in the global haemophilia population: prevalence, implications and expert opinions for weight management. Obesity Reviews.2018;19(11):1569-84.doi:10.1111/obr.12746
23. Lim MY, Wei G, Presson AP, Bray P, Rodgers GM. High prevalence of overweight/obesity in adult persons with hemophilia in Utah and a review of the literature. Blood Coagulation & Fibrinolysis. 2020;31(8):522-9.doi:10.1097/MBC.0000000000000957
24. Ullman M, Zhang QC, Brown D, Grant A, Soucie JM, Hemophilia Treatment Center Network Investigators. Association of overweight and obesity with the use of self and home‐based infusion therapy among haemophilic men. Haemophilia. 2014; 20(3):340-8.doi:10.1111/hae.12303.
25. Soucie JM, Wang C, Siddiqi A, Kulkarni R, Recht M, Konkle BA, Hemophilia Treatment Center Network. The longitudinal effect of body adiposity on joint mobility in young males with Haemophilia A. Haemophilia. 2011;17(2):196-203.doi:10.1111/j.1365-2516.2010.02400.x.
26. Mazepa MA, Monahan PE, Baker JR, Riske BK, Soucie JM. Men with severe hemophilia in the United States: birth cohort analysis of a large national database. Blood, The Journal of the American Society of Hematology. 2016;127(24):3073-81.doi:10.1182/blood-2015-10-675140
27. Esposito P, Rampino T, Gregorini M, Fasoli G, Gamba G, Canton AD. Renal diseases in haemophilic patients: pathogenesis and clinical management. European Journal of Haematology. 2013;91(4):287-94. doi:10.1111/ejh.12134
28. Qvigstad C, Tait RC, Rauchensteiner S, Berntorp E, de Moerloose P, Schutgens RE, Holme PA, ADVANCE Working Group. The elevated prevalence of risk factors for chronic liver disease among ageing people with hemophilia and implications for treatment. Medicine. 2018;97(39):e12551.doi:10.1097/MD.0000000000012551
29. Kulkarni R, Soucie JM, Lusher J, Presley R, Shapiro A, Gill J, Manco‐Johnson M, Koerper M, Mathew P, Abshire T, Dimichele D. 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(6):1281-90.doi:10.1111/j.1365-2516.2009.02074.x
30. Thorat T, Neumann PJ, Chambers JD. Hemophilia burden of disease: a systematic review of the cost-utility literature for hemophilia. Journal of Managed Care & Specialty Pharmacy. 2018 Jul;24(7):632-42.doi:10.18553/jmcp.2018.24.7.632
31. Burke T, Asghar S, O’Hara J, Sawyer EK, Li N. Clinical, humanistic, and economic burden of severe hemophilia B in the United States: Results from the CHESS US and CHESS US+ population surveys. Orphanet Journal of Rare Diseases. 2021;16:1-8. doi:10.1186/s13023-021-01774-9
32. Franchini M, Mannucci PM. Past, present and future of hemophilia: a narrative review. Orphanet Journal of Rare Diseases. 2012; 7:1-8.doi:10.1186/1750-1172-7-24
33. Auerswald G, Dolan G, Duffy A, Hermans C, Jimenez-Yuste V, Ljung R, Morfini M, Lambert T, Šalek SZ. Pain and pain management in haemophilia. Blood Coagulation & Fibrinolysis. 2016;27(8):845-54. doi:10.1097/MBC.0000000000000571
34. Marijke van den Berg H. Preventing bleeds by treatment: new era for haemophilia changing the paradigm. Haemophilia. 2016;22:9-13.doi:10.1111/hae.12993
35. Bauer KA. Current challenges in the management of hemophilia. Am J Manag Care. 2015;21(6 Suppl):S112-22.
36. Ullman M, Zhang QC, Grosse SD, Recht M, Soucie JM, Hemophilia Treatment Center Network Investigators. Prophylaxis use among males with haemophilia B in the United States. Haemophilia. 2017;23(6):910-7. doi:10.1111/hae.13317
2. Peyvandi F, Garagiola I, Young G. The past and future of haemophilia: diagnosis, treatments, and its complications. The Lancet. 2016;388(10040):187-97.doi:10.1016/S0140-6736(15)01123-X
3. Zimmerman B, Valentino LA. Hemophilia: in review. Pediatrics in Review. 2013;34(7):289-95.doi:10.1542/pir.34-7-289.
4. Soucie JM, Miller CH, Dupervil B, Le B, Buckner TW. Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres. Haemophilia. 2020;26(3):487-93.doi:10.1111/hae.13998
5. Mehta P, Reddivari AK. Hemophilia.Updated 2023 Jun 5. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK551607/
6. Iorio A, Stonebraker JS, Chambost H, Makris M, Coffin D, Herr C, Germini F, 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. Annals of Internal Medicine. 2019;171(8):540-6..doi:10.7326/M19-1208
7. Li N, Sawyer EK, Maruszczyk K, et al., Adult lifetime cost of hemophilia B management in the US: payer and societal perspectives from a decision analytic model. Journal of Medical Economics. 2021;24(1):363-72.doi:10.1080/13696998.2021.1891088
8. Zhou ZY, Koerper MA, Johnson KA, et al., Burden of illness: direct and indirect costs among persons with hemophilia A in the United States. Journal of Medical Economics. 2015;18(6):457-65.doi:10.3111/13696998.2015.1016228
9. Schieve LA, Byams VR, Dupervil B, et al. Evaluation of CDC’s Hemophilia Surveillance Program-Universal Data Collection (1998–2011) and Community Counts (2011–2019), United States. MMWR Surveillance Summaries2020;69(No. SS-5):1–18. doi:10.15585/mmwr.ss6905a1.
10. Soucie JM, Evatt B, Jackson D, Hemophilia Surveillance System Project Investigators. Occurrence of hemophilia in the United States. American Journal of Hematology. 1998 Dec;59(4):288-94.doi:10.1002/(SICI)1096-8652(199812)59:4<288::AID-AJH4>3.0.CO;2-I
11. Fedewa S, Valentino LA, Koo A, Cafuir L, Tran Jr DQ, Antun AG, Kempton CL. Race and Ethnicity Reporting and Representation in Hemophilia Clinical Trials. Blood Advances. 2024: 2024012862.doi:10.1182/bloodadvances.2024012862
12. Kulkarni R, Soucie JM, Evatt B, Hemophilia Surveillance System Project Investigators. Renal disease among males with haemophilia. Haemophilia. 2003;9(6):703-10.doi:10.1046/j.1351-8216.2003.00821.x
13. Knobe K, Berntorp E. Haemophilia and joint disease: pathophysiology, evaluation, and management. Journal of Comorbidity. 2011;1(1):51-9.doi:10.15256/joc.2011.1.2
14. Gooding R, Thachil J, Alamelu J, Motwani J, Chowdary P. Asymptomatic joint bleeding and joint health in hemophilia: a review of variables, methods, and biomarkers. Journal of Blood Medicine. 2021:209-20.doi:10.2147/JBM.S304597
15. Curtis R, Baker J, Riske B, Ullman M, Niu X, Norton K, Lou M, Nichol MB. Young adults with hemophilia in the US: demographics, comorbidities, and health status. American Journal of Hematology. 2015;90:S11-6.doi:10.1002/ajh.24218
16. Gualtierotti R, Solimeno LP, Peyvandi F. Hemophilic arthropathy: current knowledge and future perspectives. Journal of Thrombosis and Haemostasis. 2021;19(9):2112-21.doi:10.1111/jth.15444
17. Wallny TA, Scholz DT, Oldenburg J, Nicolay C, Ezziddin S, Pennekamp PH, Stoffel‐Wagner B, Kraft CN. Osteoporosis in haemophilia–an underestimated comorbidity?. Haemophilia. 2007;13(1):79-84.doi:10.1111/j.1365-2516.2006.01405.x.
18. O’Hara J, Walsh S, Camp C, Mazza G, Carroll L, Hoxer C, Wilkinson L. The impact of severe haemophilia and the presence of target joints on health-related quality-of-life. Health and Quality of Life Outcomes. 2018;16:1-8.doi:10.1186/s12955-018-0908-9
19. Holstein K, Klamroth R, Richards M, Carvalho M, PÉREZ‐GARRIDO R, Gringeri A, European Haemophilia Therapy Standardization Board. Pain management in patients with haemophilia: a European survey. Haemophilia. 2012;18(5):743-52.doi:10.1111/j.1365-2516.2012.02808.x
20. Stromer W, Pabinger I, Ay C, Crevenna R, et al. Pain management in hemophilia: expert recommendations. Wiener KlinischeWochenschrift. 2021; 1:1-5.doi:10.1007/s00508-020-01798-4
21. Siddiqi AA, Ebrahim SH, Soucie JM, Parker CS, Atrash HK. Burden of disease resulting from hemophilia in the US.Am J Prev Med.2010: 38 (4 supl): S482-8.doi:10.1016/j.amepre.2009.12.016
22. Wilding J, Zourikian N, Di Minno M, et al. Obesity in the global haemophilia population: prevalence, implications and expert opinions for weight management. Obesity Reviews.2018;19(11):1569-84.doi:10.1111/obr.12746
23. Lim MY, Wei G, Presson AP, Bray P, Rodgers GM. High prevalence of overweight/obesity in adult persons with hemophilia in Utah and a review of the literature. Blood Coagulation & Fibrinolysis. 2020;31(8):522-9.doi:10.1097/MBC.0000000000000957
24. Ullman M, Zhang QC, Brown D, Grant A, Soucie JM, Hemophilia Treatment Center Network Investigators. Association of overweight and obesity with the use of self and home‐based infusion therapy among haemophilic men. Haemophilia. 2014; 20(3):340-8.doi:10.1111/hae.12303.
25. Soucie JM, Wang C, Siddiqi A, Kulkarni R, Recht M, Konkle BA, Hemophilia Treatment Center Network. The longitudinal effect of body adiposity on joint mobility in young males with Haemophilia A. Haemophilia. 2011;17(2):196-203.doi:10.1111/j.1365-2516.2010.02400.x.
26. Mazepa MA, Monahan PE, Baker JR, Riske BK, Soucie JM. Men with severe hemophilia in the United States: birth cohort analysis of a large national database. Blood, The Journal of the American Society of Hematology. 2016;127(24):3073-81.doi:10.1182/blood-2015-10-675140
27. Esposito P, Rampino T, Gregorini M, Fasoli G, Gamba G, Canton AD. Renal diseases in haemophilic patients: pathogenesis and clinical management. European Journal of Haematology. 2013;91(4):287-94. doi:10.1111/ejh.12134
28. Qvigstad C, Tait RC, Rauchensteiner S, Berntorp E, de Moerloose P, Schutgens RE, Holme PA, ADVANCE Working Group. The elevated prevalence of risk factors for chronic liver disease among ageing people with hemophilia and implications for treatment. Medicine. 2018;97(39):e12551.doi:10.1097/MD.0000000000012551
29. Kulkarni R, Soucie JM, Lusher J, Presley R, Shapiro A, Gill J, Manco‐Johnson M, Koerper M, Mathew P, Abshire T, Dimichele D. 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(6):1281-90.doi:10.1111/j.1365-2516.2009.02074.x
30. Thorat T, Neumann PJ, Chambers JD. Hemophilia burden of disease: a systematic review of the cost-utility literature for hemophilia. Journal of Managed Care & Specialty Pharmacy. 2018 Jul;24(7):632-42.doi:10.18553/jmcp.2018.24.7.632
31. Burke T, Asghar S, O’Hara J, Sawyer EK, Li N. Clinical, humanistic, and economic burden of severe hemophilia B in the United States: Results from the CHESS US and CHESS US+ population surveys. Orphanet Journal of Rare Diseases. 2021;16:1-8. doi:10.1186/s13023-021-01774-9
32. Franchini M, Mannucci PM. Past, present and future of hemophilia: a narrative review. Orphanet Journal of Rare Diseases. 2012; 7:1-8.doi:10.1186/1750-1172-7-24
33. Auerswald G, Dolan G, Duffy A, Hermans C, Jimenez-Yuste V, Ljung R, Morfini M, Lambert T, Šalek SZ. Pain and pain management in haemophilia. Blood Coagulation & Fibrinolysis. 2016;27(8):845-54. doi:10.1097/MBC.0000000000000571
34. Marijke van den Berg H. Preventing bleeds by treatment: new era for haemophilia changing the paradigm. Haemophilia. 2016;22:9-13.doi:10.1111/hae.12993
35. Bauer KA. Current challenges in the management of hemophilia. Am J Manag Care. 2015;21(6 Suppl):S112-22.
36. Ullman M, Zhang QC, Grosse SD, Recht M, Soucie JM, Hemophilia Treatment Center Network Investigators. Prophylaxis use among males with haemophilia B in the United States. Haemophilia. 2017;23(6):910-7. doi:10.1111/hae.13317
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Dave, P. (2024). Prevalence and Incidence of Hemophilia in the US. Asian Journal of Hospital Pharmacy, 4(2), 34-39. https://doi.org/10.38022/ajhp.v4i2.85
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