Using national patient registries from Australia, Canada, France, Italy, New Zealand, and the United Kingdom, researchers calculated estimates of global prevalence, prevalence at birth, and life expectancy disadvantage for men with hemophilia. Their findings were reported in Annals of Internal Medicine.
Hemophilia A of all severities had a mean estimated prevalence per 100,000 males of 17.1, with severe hemophilia A having a prevalence per 100,000 males of 6.0. Prevalence at birth per 100,000 males was 24.6 for all severities of hemophilia A and 9.5 for severe hemophilia A.
For hemophilia B of all severities, mean estimated prevalence per 100,000 males was 3.8, and prevalence per 100,000 males for severe hemophilia B was 1.1. Prevalence per 100,000 males at birth for all severities and for severe hemophilia B was 5.0 and 1.5, respectively.
Upon extrapolating these prevalences to the global population while assuming minimal confounding due to consanguineous breeding or founder effects, the researchers determined an estimated 1,125,000 men worldwide have hemophilia, 418,000 of whom have severe hemophilia. When contrasted with the 196,706 patients who have been identified as having hemophilia globally, this finding suggests that “more efficient diagnostic approaches are needed in less wealthy countries” and that “increased demand for care should drive new policy planning and spur renewed effort toward the development and manufacture of new drugs.”
Furthermore, the researchers noted that the ratio of prevalence to prevalence at birth can be used to estimate survival disadvantage. Using this measurement, the researchers calculated life expectancy disadvantages of 30% for hemophilia A of all severities, 37% for severe hemophilia A, 24% for hemophilia B of all severities, and 27% for severe hemophilia B in high-income countries. “Even for [wealthier] countries, the quality of hemophilia care is still insufficient,” the authors concluded.
Disclosures: Some authors have declared affiliations with the pharmaceutical industry. Please refer to the original study for a full list of disclosures.
1. Iorio A, Stonebraker JS, Chambost H, et al. Establishing the male prevalence and prevalence at birth of hemophilia [published online September 10, 2019]. Ann Intern Med. doi:10.7326/M19-1208