Estimating hemophilia prevalence and life expectancy

What is this research about?

Hemophilia is a genetic disorder that prevents blood from clotting normally, leading to prolonged bleeding. The two major types of hemophilia are caused by a mutation in either the F8 (hemophilia A) or F9 (hemophilia B) gene, which causes a deficiency in clotting factors VIII and IX, respectively. The severity of the disease (ranging from mild to severe) depends on the mutation or deletion observed in the F8 and F9 genes. The main treatment for hemophilia is replacement therapy, which involves injecting a patient with the missing clotting factor. This treatment can be expensive or, in lower-income countries, not available. When replacement therapy is available, serious problems associated with hemophilia A or B can be prevented and the life expectancy of the individual should approximate that of the general population.

To better understand the global burden of hemophilia, it is essential to have accurate data on the number of males with hemophilia across countries. Men are almost exclusively affected as the genes for these proteins are located on the X chromosome of which men have only one copy. The aim of this study was to accurately estimate prevalence at birth of hemophilia and life expectancy by type (A or B) and severity. Global comparisons of expected and observed numbers of patients with hemophilia can provide insights into the efficiency of healthcare systems.

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