• Alfonso Iorio, Jeffrey S Stonebraker, Hervé Chambost, Michael Makris, Donna Coffin, Christine Herr, Federico Germini, and Data and Demographics Committee of the World Federation of Hemophilia.
• McMaster University, Hamilton, Ontario, Canada (A.I., F.G.).
• Ann. Intern. Med. 2019 Oct 15; 171 (8): 540-546.

BackgroundThe large observed variability in hemophilia prevalence prevents robust estimation of burden of disease.ObjectiveTo estimate the prevalence and prevalence at birth of hemophilia and the associated life expectancy disadvantage.DesignRandom-effects meta-analysis of registry data.SettingAustralia, Canada, France, Italy, New Zealand, and the United Kingdom.ParticipantsMale patients with hemophilia A or B.MeasurementsPrevalence 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.ResultsPrevalence (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.LimitationDetails were insufficient to adjust for comorbid conditions and ethnicity.ConclusionThe 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 SourceNone.

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