Bridging the gap: the landscape and management of haemophilia B in Saudi Arabia
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With an estimated 450 to 500 people living with haemophilia B across the Kingdom of Saudi Arabia, the condition remains rare but carries a disproportionate burden. High rates of consanguineous marriage, regional disparities in specialist care and a rapidly evolving treatment landscape present both challenges and opportunities. Dr Hazaa AlZahrani, a consultant haematologist at King Faisal Specialist Hospital & Research Centre, discusses the realities of diagnosis, management and the transformative potential of gene therapy in a country whose Vision 2030 agenda is reshaping healthcare from the ground up
Written by Emma Bishop, RARE Revolution
Interview with Dr Hazaa AlZahrani, consultant haematologist and stem cell transplantation specialist,
King Faisal Specialist Hospital & Research Centre, Riyadh
Dr Hazaa AlZahrani is a consultant in haematology and stem cell transplantation at King Faisal Specialist Hospital & Research Centre (KFSHRC) in Riyadh, one of the most advanced medical centres in the Middle East. His clinical focus spans benign haematology, cellular therapy and advanced therapeutics, placing him at the centre of Saudi Arabia’s efforts to improve care for people with inherited bleeding disorders. “My interest in haematology stems from its unique intersection of complex pathophysiology, precision medicine and the opportunity to deliver transformative therapies,” he explains.
A rare condition with a distinct local profile
Haemophilia B is an X-linked recessive bleeding disorder caused by a deficiency of coagulation factor IX. It accounts for approximately 15% of all haemophilia cases, affects an estimated one in 30,000 males worldwide, and ranges in severity from mild, where bleeding follows significant trauma or surgery, to severe, where spontaneous bleeds into joints and muscles can cause progressive and irreversible damage.1,2
In Saudi Arabia, prevalence broadly aligns with international estimates, but demographic and genetic factors elevate the overall burden of inherited bleeding disorders. “By talking to colleagues and different territory care centres, there are about 452 to 500 cases of haemophilia B in the Kingdom of Saudi Arabia,” Hazaa reports. This figure, gathered through clinical networks rather than a centralised registry, underscores one of the country’s persistent challenges: the absence of a comprehensive national patient database.
The prevalence of consanguineous marriage in Saudi Arabia is among the highest in the world, with national surveys reporting rates of approximately 56%.4,5 This practice has well-documented implications for the inheritance of recessive genetic conditions. “Consanguineous marriage significantly increases the prevalence of inherited disorders, including haemophilia, by amplifying the expression of recessive genetic mutations,” Hazaa notes. The effect is visible across the spectrum of bleeding disorders: Glanzmann thrombasthenia, for example, has been reported at up to five times the international prevalence in Saudi Arabia.3,6
Diagnosis and the urban–rural divide
Early diagnosis of haemophilia B is critical. Without it, repeated joint bleeds can cause haemophilic arthropathy, a progressive form of joint disease that significantly impairs mobility and quality of life. Yet across Saudi Arabia, the pathway to diagnosis remains uneven.
“Delayed recognition, limited awareness in primary care and variable access to specialised testing are key challenges,” Hazaa explains. “Early diagnosis is critical to prevent irreversible complications such as joint damage.”
Geography compounds the problem. Saudi Arabia covers more than two million square kilometres, with population centres separated by vast distances. Major cities such as Riyadh, Jeddah and Dammam benefit from proximity to specialist haematology services and tertiary hospitals, while rural communities face significant barriers.7 “Urban centres benefit from earlier diagnosis and access to specialised care, while remote areas face delays due to limited awareness, infrastructure and referral pathways,” Hazaa observes.
Cultural factors add a further layer of complexity. Genetic conditions can carry stigma, particularly where awareness of rare disease is limited. “National awareness campaigns and patient advocacy efforts are gradually improving acceptance and understanding.” Hazaa acknowledges. Saudi Arabia’s mandatory premarital screening programme, introduced in 2004,8 has contributed to broader public awareness of hereditary conditions, though haemophilia is not among the conditions currently screened for.
A changing treatment landscape
The management of haemophilia B has changed substantially over the past two decades. Treatment centres in the Kingdom now offer a range of approaches. “Management includes on-demand therapy, prophylactic replacement, extended half-life therapies and emerging curative approaches such as gene therapy,” Hazaa outlines.
One of the most significant shifts has been the move from plasma-derived to recombinant factor IX products. Plasma-derived therapies carry a residual risk of blood-borne infection, a concern that was particularly acute during earlier decades of haemophilia treatment. Recombinant products, manufactured using DNA technology and free from human plasma, have largely replaced their predecessors in well-resourced healthcare systems. “This transition has markedly improved safety, reduced infection risk and enhanced patient confidence and long-term outcomes,” Hazaa states.
Extended half-life factor IX concentrates have further reduced the treatment burden by requiring less frequent intravenous infusions. For many patients, this has opened the door to self-administration at home. “It improves independence, adherence and quality of life,” Hazaa says. “Structured education programmes and specialised haemophilia centres support this transition.”
Access, however, remains unequal. While major centres such as KFSHRC offer comprehensive, multidisciplinary haemophilia care, patients in peripheral areas may lack the same standard of treatment and expertise.
“Major centres offer comprehensive care, but disparities persist in peripheral regions, highlighting the need for network-based care models,” Hazaa explains.
Gene therapy: a new chapter
Of all the recent advances in haemophilia B treatment, gene therapy represents the most fundamental shift. Rather than replacing the missing clotting factor through regular infusions, gene therapy aims to enable the body to produce factor IX on its own, using a viral vector to deliver a functional copy of the gene to the liver. The first gene therapy for haemophilia B received US regulatory approval in November 2022, and has since been approved in Europe.9,10
“Gene therapy is redefining care by offering the potential for long-term factor expression and reduced treatment burden. Eligibility, however, is defined by strict clinical criteria. “Eligibility depends on clinical stability, absence of inhibitors and organ function. Access remains limited but is expected to expand with national strategic initiatives.”
The cost of gene therapies, and the infrastructure required for their administration and long-term patient monitoring, are significant considerations for a country with a geographically dispersed population and a healthcare system in active transformation.
Living with haemophilia B in Saudi Arabia
The daily realities of haemophilia B extend well beyond the clinical. “Chronic joint disease, treatment burden and psychosocial stress are the main challenges affecting quality of life,” Hazaa states. The need for regular intravenous infusions can affect work, education and social participation, while the psychological toll of managing a lifelong bleeding disorder in communities where awareness is limited should not be underestimated.
Saudi Arabia’s climate presents its own considerations. Temperatures regularly exceed 45°C during summer, restricting outdoor activity and increasing the risk of dehydration. Hazaa advises patients to focus on “low-impact exercise, hydration, swimming, and avoiding high-risk activities”: a practical approach to maintaining physical health while minimising the risk of bleeds.
Patient organisations play a complementary role. Hazaa describes them as “essential in education, advocacy and psychosocial support, complementing clinical services and improving patient engagement.” The World Federation of Hemophilia’s engagement with Saudi Arabia since 2002 has been a catalyst for improved organisation and advocacy, helping to establish networks that connect patients with clinical services and with one another.3
Vision 2030 and the road ahead
Saudi Arabia’s Vision 2030 programme sets out an ambitious agenda for healthcare transformation, including improved access, enhanced quality and disease prevention.11 The programme prioritises reducing disparities between urban and rural provision, expanding private-sector involvement and investing in digital health. For rare diseases, the agenda also includes the development of a national rare disease definition and strengthened regulatory frameworks for orphan medicines, led in collaboration with the Saudi Health Council.12
For haemophilia B, these reforms carry direct implications.
“We anticipate expanded access to advanced therapies, strengthened national registries and integration of precision medicine,” Hazaa says.
A functioning national registry would provide the epidemiological data needed to plan services, allocate resources and support clinical research.
Hazaa’s five-year vision for haemophilia care in the Kingdom is specific: “A fully integrated national haemophilia network delivering equitable, patient-centred care with access to prophylaxis, gene therapy and comprehensive multidisciplinary support.” The tools to transform haemophilia B care now exist. The challenge lies in ensuring that every patient in the Kingdom, whether in Riyadh or in a remote community hundreds of kilometres from the nearest specialist centre, can benefit from them.
References
[1] Orphanet. Hemophilia B [disease summary]. Available at: https://www.orpha.net/en/disease/detail/98879
[2] Medscape. Hemophilia B (Factor IX Deficiency): Epidemiology. Available at: https://emedicine.medscape.com/article/779434-overview
[3] Owaidah T. Outreach and diagnosis: Saudi Arabia’s experience. Haemophilia. 2020;26(Suppl 4):18–19. doi:10.1111/hae.13890
[4] El-Mouzan MI, Al-Salloum AA, Al-Herbish AS, Qurachi MM, Al-Omar AA. Regional variations in the prevalence of consanguinity in Saudi Arabia. Saudi Medical Journal. 2007;28(12):1881–1884.
[5] Albanghali MA. Consanguineous Marriage and Its Association With Genetic Disorders in Saudi Arabia: A Review. Cureus. 2024;16(2):e54033. doi:10.7759/cureus.54033
[6] Aldakeel SA, Ghanem NZ, Al Amodi AM, et al. Bleeding disorders in Saudi Arabia, causes and prevalence: a review. Medicine. 2024;103(14):e37765. doi:10.1097/MD.0000000000037765
[7] Noun P, Khanani MF, Wali Y, et al. Challenges for Hemophilia Patient Care Across the Middle East and North Africa. Oman Medical Journal. 2023;38(3):e517. doi:10.5001/omj.2023.99
[8] Memish ZA, Saeedi MY. Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia. Annals of Saudi Medicine. 2011;31(3):229–235. doi:10.4103/0256-4947.81527
[9] Pipe SW, Leebeek FWG, Recht M, et al. Gene therapy with etranacogene dezaparvovec for hemophilia B. New England Journal of Medicine. 2023;388(8):706–718. doi:10.1056/NEJMoa2211644
[10] Anguela XM, High KA. Hemophilia B and gene therapy: a new chapter with etranacogene dezaparvovec. Blood Advances. 2024;8(7):1796–1803. doi:10.1182/bloodadvances.2023010511
[11] Alasiri AA, Mohammed V. Healthcare Transformation in Saudi Arabia: An Overview Since the Launch of Vision 2030. Health Services Insights. 2022;15:11786329221121214. doi:10.1177/11786329221121214
[12] Abozaid GM, et al. Shaping national rare diseases definition in Saudi Arabia: outcome from health ecosystem multisectoral workshop. Frontiers in Pharmacology. 2025;16:1595967. doi:10.3389/fphar.2025.1595967
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