by Sylvester Orao, Charity Chao, Caroline Karugu, Patrick Ilboudo, and Richard Sanya

Introduction

Haemophilia is a rare genetic disorder often shrouded in mystery and misconception. It is a lifelong bleeding condition affecting thousands worldwide, turning even the simplest everyday activities into potential medical emergencies. Nowhere are the stakes higher than in sub-Saharan Africa, where severely limited healthcare resources leave patients and their families at far greater risk of complications, lifelong disability, devastating financial strain, and premature death than those in better-resourced settings.

The Basics: What is Haemophilia?

Haemophilia is an inherited bleeding disorder that is caused by a deficiency in clotting factor VIII (haemophilia A) or factor IX (haemophilia B), which impairs the blood’s ability to clot and leads to prolonged or uncontrolled bleeding. It is transmitted in a recessive pattern linked to the X chromosome, and therefore primarily affects males,  with females typically serving as carriers. Its symptoms span from extended bleeding following minor injuries to severe spontaneous bleeding into joints, often causing chronic joint disease involving cartilage loss, synovial changes, and bone damage. Over time, this joint damage leads to physical disabilities, chronic pain, and psychological burden, all of which significantly contribute to poorer health-related quality of life. Beyond the joints, haemophilia also causes spontaneous bleeding into organs such as the brain, resulting in life-threatening intracranial haemorrhage. Globally, haemophilia A occurs in approximately 1 in 5,000 male births, whereas haemophilia B affects about 1 in 30,000, with estimates varying across populations. As of 2024, a total of 271,918 people with haemophilia have been identified worldwide, comprising roughly 224,353 cases of haemophilia A and 45,600 cases of haemophilia B. Treatment involves replacing the missing clotting factor, delivered directly into the bloodstream via intravenous infusion of clotting factor concentrates (CFCs). This can be administered on-demand to treat bleeding episodes as they arise, or through regular scheduled infusions to prevent them from occurring in the first place.

Treatment has advanced significantly in recent years, with newer options that last longer, work differently, or may even offer a permanent cure through gene therapy. Yet for many patients in low-resource settings, these remain out of reach. Drugs like emicizumab, which mimic the missing clotting factor and require far less frequent dosing, are expensive, making them simply inaccessible where healthcare resources are limited.

Haemophilia in Sub-Saharan Africa: The hidden burden

Sub-Saharan Africa bears a disproportionate yet underreported burden of Haemophilia. Despite representing approximately 15.9% of the world’s population, the region accounts for less than 3% of globally identified haemophilia patients. According to the World Federation of Haemophilia (WFH), only 9,700 cases have been identified across the African region, including 1,065 in Kenya and 426 in Uganda. These figures certainly underestimate the true scope due to widespread underdiagnosis. Furthermore, only about 11.4% of expected cases are currently identified, with only 2% accessing the CFCs, the standard treatment.

This gap exists because diagnostic tools are scarce, healthcare infrastructure is uneven, and cultural stigma keeps the patients and their families silent. In rural areas of sub-Saharan Africa, where most people live, trained healthcare professionals and specialised haemophilia treatment centres are few. As a result, many patients rely on whole blood transfusions or cryoprecipitate, which are crude and risky alternatives that do not prevent long-term complications.

The economic plight of Haemophilia treatment

The economic burden of Haemophilia in sub-Saharan Africa extends beyond medical expenses (direct medical and non-medical out-of-pocket costs); it also encompasses indirect costs and social consequences that perpetuate poverty for patients and their families. At the core are the high prices of CFCs, which are typically needed two to three times per week. These plasma-derived or recombinant products can range from approximately US$350 per dose for mild cases in children to over US$1,000 for severe cases in children, with adult doses generally twice as much. Even newer therapies like emicizumab, which offer greater convenience through weekly, bi-weekly, or monthly subcutaneous injections (given after an initial loading phase), remain extremely expensive. Studies show that, even at discounted prices, these treatments still carry an annual cost ranging from US$29,000 to US$232,000 per patient in lower-middle-income settings. In countries like Kenya and Uganda,  comprehensive annual treatment can easily run into hundreds or even thousands of U.S. dollars, an impossible sum for households in a region where about 46.9% of Kenyans and 59.8% of Ugandans live on less than US$2 per day.

According to a recent review, in low and middle-income countries, including sub-Saharan Africa, the average annual cost of episodic on-demand treatment was approximately US$ 18,650 (51,691 international dollars (I$)) per patient in 2022 prices, with CFCs accounting for up to 94% of this expenditure. Regular preventive treatment(prophylaxis) has been proven to be more cost-effective over time, reducing hospitalisations and protecting joint health. It is, however, unaffordable for most patients without subsidies. As a result, they rely on on-demand care, treating bleeds as they arise and enduring the cumulative toll of repeated bleeding episodes.

Indirect costs further worsen the care burden of the disease. Frequent hospital visits, lost workdays for caregivers, diminished productivity amongst patients due to absenteeism from work or school, and long-term disabilities accumulate relentlessly. In sub-Saharan African countries like Kenya, where social health insurance covers only about 17% of the population, out-of-pocket expenses rapidly deplete family savings, forcing debts, compelling asset sales, or leading to delayed care. This may be further compounded by stigma, where the undiagnosed or untreated individuals may encounter discrimination, which isolates families and deters early intervention.

The healthcare system is also affected by this strain. For instance, the global production of factor VIII totals 9.8 billion units per year, yet low- and middle-income countries consume only 6% of this supply, equating to 0.5 units per capita, compared to 5.7 units per capita in high-income countries. This extreme shortage fuels higher morbidity, prolonged hospital stays, and increased mortality, further burdening the under-resourced healthcare systems.

Glimmers of Hope

Amidst the challenges, there is progress: emerging therapies, such as low-dose prophylaxis regimens, offer cost-effective alternatives for resource-constrained settings, while advancing gene therapy trials, supported by international collaborations, are helping to close the affordability gap. The African Population and Health Research Center, collaborating with the Kenya Haemophilia Association and the  Haemophilia Foundation of Uganda, and supported by the Novo Nordisk Haemophilia and Haemoglobinopathies Foundation, is conducting a study to evaluate the economic and health burden of haemophilia treatment on households and health systems in Kenya and Uganda. The findings will inform national health policies, optimize resource allocation, and shape cost-effective, sustainable haemophilia care models across sub-Saharan Africa, ultimately improving health outcomes and equity for affected individuals.

In summary, haemophilia is a manageable condition when supported by the right tools and adequate resources. The evidence is clear; widespread underdiagnosis, unaffordable treatments, and high indirect costs create a cycle of hardship. But the opportunity for change is just as evident. By generating robust evidence and building local expertise, we can transform this burden into a sustainable, manageable reality.