According to the Orphanet definition , hemophilia is a rare hematological disease characterized by spontaneous hemorrhage or prolonged bleeding due to a deficiency of factor VIII or IX.
On the occasion of the celebration of World Hemophilia Day tomorrow, April 17, we spoke with Daniel-Aníbal García, president of the Spanish Federation of Hemophilia(FEDHEMO) and patient of this same pathology, to discuss the present and future of this disease, its current situation in Spain and the needs -covered and uncovered- of patients.
Daniel begins by explaining that hemophilia is one of the most frequent coagulopathies, though not the most common. This disease primarily manifests as a deficiency of coagulation factors 8 or 9, giving rise to two types of the same disease: hemophilia A and B, respectively. What distinguishes hemophilia from other blood disorders is its X-linked inheritance, which makes men much more likely to develop the condition. “In Spain, if I’m not mistaken, there are about 3,050 men with hemophilia and fewer than 30 women,” explains Daniel.
Symptomatology
The symptoms and effects of hemophilia, Daniel explains, go beyond “mere bleeding.” While spontaneous bleeding is the most obvious manifestation, recurrent bleeding can have a significant impact on the patient’s joints and muscles. “The long-term effects are much more serious than they may initially appear, especially over time,” explains Daniel. In some cases, bleeding can affect organs involved in the nervous system or the digestive tract. As a result, long-term consequences include joint damage that requires constant monitoring by a healthcare professional.
Evolution of treatments and bleeding prevention
When it comes to treatments, Daniel highlights the paradigm shift in the management of hemophilia. “Historically, treatment was on-demand—that is, clotting factor was administered only after a patient had already started bleeding. But for some time now, a new method has been implemented: prophylactic treatment, which aims to prevent bleeding from occurring, rather than to treat it,” he explains.
This change has been key to improving patients’ quality of life, since preventing bleeding avoids much of the joint and muscle damage that was previously experienced. “Current treatments allow for less frequent doses, which makes daily life easier for people with hemophilia by making them much less dependent on these treatments,” he adds.
Daniel also discusses the importance of the latest advances in gene therapy and mimetic factors. “We’re at a point where, with all the treatments available, the normalization of hemostasis doesn’t seem so far off, and that’s fantastic news,” he says. This would mean that, with the right treatments, patients could have near-normal coagulation for long periods of time, significantly improving their quality of life.
The challenge of hemophilia in women
Although hemophilia primarily affects men, Daniel also points out that women who are carriers of hemophilia may face difficulties in getting diagnosed because their symptoms are less pronounced. “Women who are carriers sometimes feel that their symptoms are downplayed. This is partly because their symptoms are less obvious, and they may be misdiagnosed with other conditions, such as anemia,” he explains. Despite the low prevalence of women with hemophilia, Daniel emphasizes that hemophilia in women “is a reality that exists and must be recognized.”
This invisibility of symptoms in women has been one of the areas the Federation itself has been focusing on most recently, with the goal of improving diagnosis, treatment, and awareness of the disease among women. In this regard, Daniel notes that last year, they presented a paper at the 2024 European Hemophilia Congress on the clinical and social needs of women with hemophilia. “Women with hemophilia often feel that the impact the disease has on their lives is underestimated, since they represent the gender with the lowest incidence of the disease. This is something we have taken into account, and we are working to raise awareness of it,” he adds.
A promising future for hemophilia
When asked about the future of this disease and its treatment, Daniel is optimistic about the progress being made. “Today, hemophilia is being managed in a much more advanced way than before. Ten years ago, we couldn’t have imagined—even in our wildest dreams—the clinical landscape we have right now. The available treatments allow patients to live with far fewer limitations,” he says. Furthermore, it is expected that in the coming years, patients will be able to benefit even more from gene therapy and other innovative treatments that could transform the way hemophilia is approached and treated.
The future looks promising, and with advances in treatment, the quality of life for patients with hemophilia could improve significantly. “The goal is for people with hemophilia to be able to live a full life, free from the limitations imposed by the disease. That’s what we call ‘free mind’ hemophilia,” Daniel concludes.
This concept refers to 'forgetting' about the disease and to patients being able to lead a life 'outside' hemophilia, without worrying about the symptoms and their involvement.
However, there is still work to be done, especially with regard to less common coagulopathies and the treatment of female carriers. Thanks to research, patients with hemophilia can look forward to a future with fewer limitations, and perhaps, before long, the long-awaited “hemophilia-free mindset” will be an attainable reality for many.