Alfonso Iorio1, Jeffrey S Stonebraker2, Hervé Chambost3, Michael Makris4, Donna Coffin5, Christine Herr5, Federico Germini1. 1. McMaster University, Hamilton, Ontario, Canada (A.I., F.G.). 2. Poole College of Management at North Carolina State University, Raleigh, North Carolina (J.S.S.). 3. La Timone Hospital of Assistance Publique - Hôpitaux de Marseille, Aix-Marseille University, Institut National de la Santé et de la Recherche Médicale, and Institut National de la Recherche Agronomique, Marseille, France (H.C.). 4. University of Sheffield, Sheffield, United Kingdom (M.M.). 5. World Federation of Hemophilia, Montréal, Québec, Canada (D.C., C.H.).
Abstract
Background: The large observed variability in hemophilia prevalence prevents robust estimation of burden of disease. Objective: To estimate the prevalence and prevalence at birth of hemophilia and the associated life expectancy disadvantage. Design: Random-effects meta-analysis of registry data. Setting: Australia, Canada, France, Italy, New Zealand, and the United Kingdom. Participants: Male patients with hemophilia A or B. Measurements: Prevalence of hemophilia as a proportion of cases to the male population, prevalence of hemophilia at birth as a proportion of cases to live male births by year of birth, life expectancy disadvantage as a 1 - ratio of prevalence to prevalence at birth, and expected number of patients worldwide based on prevalence in high-income countries and prevalence at birth. Results: Prevalence (per 100 000 males) is 17.1 cases for all severities of hemophilia A, 6.0 cases for severe hemophilia A, 3.8 cases for all severities of hemophilia B, and 1.1 cases for severe hemophilia B. Prevalence at birth (per 100 000 males) is 24.6 cases for all severities of hemophilia A, 9.5 cases for severe hemophilia A, 5.0 cases for all severities of hemophilia B, and 1.5 cases for severe hemophilia B. The life expectancy disadvantage for high-income countries is 30% for hemophilia A, 37% for severe hemophilia A, 24% for hemophilia B, and 27% for severe hemophilia B. The expected number of patients with hemophilia worldwide is 1 125 000, of whom 418 000 should have severe hemophilia. Limitation: Details were insufficient to adjust for comorbid conditions and ethnicity. Conclusion: The prevalence of hemophilia is higher than previously estimated. Patients with hemophilia still have a life expectancy disadvantage. Establishing prevalence at birth is a milestone toward assessing years of life lost, years of life with disability, and burden of disease. Primary Funding Source: None.
Background: The large observed variability in hemophilia prevalence prevents robust estimation of burden of disease. Objective: To estimate the prevalence and prevalence at birth of hemophilia and the associated life expectancy disadvantage. Design: Random-effects meta-analysis of registry data. Setting: Australia, Canada, France, Italy, New Zealand, and the United Kingdom. Participants: Male patients with hemophilia A or B. Measurements: Prevalence of hemophilia as a proportion of cases to the male population, prevalence of hemophilia at birth as a proportion of cases to live male births by year of birth, life expectancy disadvantage as a 1 - ratio of prevalence to prevalence at birth, and expected number of patients worldwide based on prevalence in high-income countries and prevalence at birth. Results: Prevalence (per 100 000 males) is 17.1 cases for all severities of hemophilia A, 6.0 cases for severe hemophilia A, 3.8 cases for all severities of hemophilia B, and 1.1 cases for severe hemophilia B. Prevalence at birth (per 100 000 males) is 24.6 cases for all severities of hemophilia A, 9.5 cases for severe hemophilia A, 5.0 cases for all severities of hemophilia B, and 1.5 cases for severe hemophilia B. The life expectancy disadvantage for high-income countries is 30% for hemophilia A, 37% for severe hemophilia A, 24% for hemophilia B, and 27% for severe hemophilia B. The expected number of patients with hemophilia worldwide is 1 125 000, of whom 418 000 should have severe hemophilia. Limitation: Details were insufficient to adjust for comorbid conditions and ethnicity. Conclusion: The prevalence of hemophilia is higher than previously estimated. Patients with hemophilia still have a life expectancy disadvantage. Establishing prevalence at birth is a milestone toward assessing years of life lost, years of life with disability, and burden of disease. Primary Funding Source: None.
Authors: Hyungseok Jang; Annette von Drygalski; Jonathan Wong; Jenny Y Zhou; Peter Aguero; Xing Lu; Xin Cheng; Scott T Ball; Yajun Ma; Eric Y Chang; Jiang Du Journal: Magn Reson Med Date: 2020-07-14 Impact factor: 4.668
Authors: Erna C van Balen; Brian O'Mahony; Marjon H Cnossen; Gerard Dolan; Victor S Blanchette; Kathelijn Fischer; Deborah Gue; Jamie O'Hara; Alfonso Iorio; Shannon Jackson; Barbara A Konkle; Diane J Nugent; Donna Coffin; Mark W Skinner; Cees Smit; Alok Srivastava; Fred van Eenennaam; Johanna G van der Bom; Samantha C Gouw Journal: Res Pract Thromb Haemost Date: 2021-03-06