Study finds progress, gaps in hemophilia B diagnosis and care
Data from eastern Mediterranean show inequalities despite overall progress
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More people are being identified with hemophilia B across the eastern Mediterranean region, suggesting improvements in hemophilia diagnosis and reporting, according to a study analyzing 10 years of data from 14 countries in North Africa, the Middle East, and parts of Asia.
Yet more than half of those estimated to have the disease may still be going undiagnosed or unreported, with substantial differences between countries pointing to gaps in diagnostic services.
Use of factor replacement therapies also increased, but remained low overall, particularly in low-income countries.
“Although observed prevalence of [people with hemophilia B] increased over the decade, substantial gaps persist in diagnosis and treatment across the income groups,” the researchers wrote. “Low treatment utilization and disparities across income groups highlight the need for strengthened surveillance systems, improved awareness, and expanded access to care across the [region].”
The study, “Analysis of Annual Global Survey Reports for Haemophilia B in the Eastern Mediterranean Region: Disparities in Trends for A decade (2014–2023),” was published in Haemophilia.
Region spans range of countries, but data remain limited
Hemophilia B is an inherited bleeding disorder caused by a deficiency of factor IX (FIX), a protein needed for blood clotting. Hemophilia symptoms include prolonged or spontaneous bleeding, particularly into joints and muscles, which may lead to lasting damage if not treated.
Advances in hemophilia care “have significantly improved the quality of life in high-income countries,” the researchers wrote. Yet “disparities in diagnosis, treatment access and care delivery persist in low- and middle-income regions.”
The region spans countries with widely different income levels, healthcare resources, and hemophilia care programs. However, information about how many people live with hemophilia B across the eastern Mediterranean remains limited, making it difficult to identify gaps in care and plan healthcare services.
To better understand these differences, the researchers analyzed data from the World Federation of Hemophilia’s Annual Global Survey reports from 2014 to 2023. The analysis involved 14 countries that had reported hemophilia B cases for at least five years during that period.
The results showed progress in identifying people with hemophilia B, with the mean reported prevalence rising significantly from 1.18 cases per 100,000 boys and men in 2014 to 1.73 in 2023. The researchers said the increase likely reflected “improvements in laboratory diagnostic facilities, greater awareness among healthcare professionals, and national programmes.”
Still, many cases remained unaccounted for. Using an expected prevalence of 3.8 cases per 100,000 males, the researchers estimated that the mean proportion of cases identified increased from 31% in 2014 to 45% in 2023. This suggests that 55% of expected cases were still missing from reported figures in 2023.
“The substantial gap between the expected and identified cases highlights the need of strengthening national surveillance system, diagnostic capacity, laboratory facilities and access to health care services,” the researchers wrote.
The gap varied considerably among countries. In Iran and Iraq, much larger shares of expected cases were identified than in Afghanistan and Pakistan, potentially reflecting differences in the “availability of diagnostic services, good coverage and strong national reporting,” the researchers said.
The mean proportion of patients with severe hemophilia B remained relatively stable, at 44.7% in 2014 and 42.2% in 2023, but varied significantly across income groups. The researchers suggested these differences may “be explained by differences in diagnostic practices.”
“In resource-limited settings, patients with severe bleeding manifestations are more likely to be diagnosed, whereas individuals with mild or moderate disease often remain undetected,” they wrote.
Children and adolescents younger than 19 accounted for 51.2% of reported cases in 2023, a proportion that remained relatively unchanged over the decade. The researchers said that highlights “the importance of paediatric haemophilia health care services.”
Access to treatment also remained uneven.
FIX replacement therapy supplies the clotting protein that people with hemophilia B lack, helping prevent or control bleeding. Mean FIX replacement therapy use increased significantly, from 0.03 international units (IU) per person in the general population in 2014 to 0.18 IU in 2023. Despite this progress, consumption remained below the reference level of 0.5 IU per person established by a European consensus on hemophilia care and endorsed by the WFH.
Mean FIX use was higher in high-income countries such as Qatar, where it exceeded the 0.5 IU per capita benchmark, but remained particularly low in Afghanistan, Pakistan, and Sudan, which the researchers said points to inequalities in “treatment availability and treatment access” across income groups.
The team said these differences may reflect variations in “national healthcare expenditure, procurement systems, and the presence of comprehensive haemophilia treatment centres.”
“The study highlights the need to establish national registries, encourage reporting to the global agencies like WFH, and strengthen health care services for diagnosis and equitable access to treatment for [people with hemophilia B],” the researchers wrote.
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