Over 1,125,000 men all over the world are believed to have the bleeding disorder, which can cut short life expectancy.
Hemophilia from history — a genetic bleeding disorder that basically affects men and prevents the blood from clotting normally — has been considered relatively uncommon, with fewer than 500,000 estimated cases globally, according to the National Hemophilia Foundation.
But a recent study published on September 10 in the journal Annals of Internal Medicine pointed that the condition may be more common than previously thought. Indeed, the analysis performed by researchers from Britain, Canada, France, and the United States shows hemophilia may actually affect more than 1 million men worldwide and that more than 400,000 of them may have a more severe form of the disorder.
The findings could fully impact how the bleeding condition, which can be life-threatening and have significant effects on the quality of life of those who have it, is diagnosed and treated. In addition, the international research team is the first to calculate the prevalence of hemophilia among babies at birth, allowing for estimates of life expectancy for those with the condition.
Hemophilia’s Effects in Developing Countries
Perhaps not surprisingly, the researchers found that hemophilia was far more likely to reduce life expectancy in the developing world, where access to proper diagnostics and treatment is barely available.
“I think it’s our job to help less developed countries to promptly diagnose and provide care to hemophilia patients around the world,” says study coauthor Alfonso Iorio, MD, PhD, a professor in the department of health research methods, evidence, and impact (HEI) at McMaster University in Hamilton, Ontario.
“Hemophilia treatment is costly but can be optimized, and costs can be minimized by optimal use of available treatment,” Dr. Iorio says.
Risks of Untreated Hemophilia High
According to Iorio, it has long been known that hemophilia has been underreported globally for a number of reasons, including lack of resources in some countries (basically in the developing Countries). In some cases, those with mild forms of the condition may live life symptom-free and thus go undiagnosed.
However, even those with more mild hemophilia are at increased risk for bleeding out during surgery and other life-threatening complications — hence the need to get a better handle on the true prevalence of the condition.
In many cases, the basic symptom of hemophilia is uncontrolled, often spontaneous bleeding, the amount of which depends on the severity of the condition. Internal bleeding, which commonly occurs in the spaces around joints, frequently results in pain and swelling and, if left untreated, can cause permanent damage.
New Estimate Based on Well-Established Patient Registries
Iorio and his colleagues calculated their estimates using well-established hemophilia patient registries in Australia, Britain, Canada, France, Italy, and New Zealand as the basis of their analysis, focusing on male babies born in each nation. They sorted the patients in the registries by year of birth and compared them with statistics on total male newborns for each year.
They found that, per 100,000 males in the total world population, 21 have hemophilia A or B (7 of whom have a more severe form of the condition). Among newborns, per 100,000 male babies, 29 have inherited the defect in the F8 (hemophilia A) or F9 (hemophilia B) gene, which causes the condition, and 12 will have a severe form.
Based on these findings, the authors estimate that 1.125 million men worldwide have the bleeding disorder, with 418,000 having a more severe form of the condition.
“We got very consistent results independently from each of these registries,” Iorio notes. “Since the chance of having hemophilia does not vary with ethnicity, the prevalence at birth applies worldwide and allows us to calculate the expected number of patients given the world population.”
Better Diagnosis and Individualized Treatment the Goals
Uncontrolled bleeding can cause disability and even death. Ultimately, Iorio and his colleagues hope their findings will encourage more accurate diagnosis of hemophilia globally and lead to improved treatment of those with the disorder.
To that note, Iorio has established a program at McMaster called WAPPS-Hemo, which stands for web-accessible-population pharmacokinetic for hemophilia. The tool allows doctors anywhere in the world to calculate the exact dose of hemophilia treatment — typically involving periodic injections of clotting factor or blood plasma — needed for their individual patients, and it’s already being used by more than 400 centers in 50 countries.
Iorio adds that Peter L. Gross, MD, who is an associate professor in the division of hematology and thromboembolism at McMaster, is developing a portable device that can be used to test blood for the genetic defects that cause hemophilia at the point of care. This would enable clinicians even in remote parts of the world to diagnose the condition.
“[Our] paper is a milestone in our journey to providing care for hemophilia patients worldwide,” Iorio says. “Knowing how many patients are out there will enable healthcare systems to estimate the resources needed to treat the disease and enable drug manufacturers to increase the investment in research to match the demand of a patient population three times larger than we previously thought.”