What is hemophilia?

Hemophilia is a rare, inherited bleeding disorder characterized by a deficiency or dysfunction of specific clotting factors essential for normal blood coagulation. The two most common forms are:
Hemophilia A: Caused by a deficiency or dysfunction of coagulation factor VIII (FVIII).
Hemophilia B: Caused by a deficiency or dysfunction of coagulation factor IX (FIX).

Both types are X-linked recessive disorders, primarily affecting males, while females are typically carriers, but also females with <30% of coagulant factor activity could experience symptoms.

Patients with severe hemophilia, defined by FVIII or FIX activity levels below 1%, are prone to spontaneous bleeding episodes, most frequently into joints and muscle. However, even patients with moderate or mild haemophilia could have bleeding episodes.

The need

One of the most debilitating complications of hemophillia is recurrent joint bleeding, or hemarthrosis, which leads to:

  • Hemophilic arthropathy: a chronic, progressive joint disease marked by pain, swelling, stiffness, and reduced mobility.
  • Chronic pain and disability: resulting in diminished quality of life and functional limitations.
  • Early joint degeneration due to recurrent bleedings which could end with prosthetic joint replacement at a young age.

Despite advances in prophylactic treatment and factor replacement therapies, managing hemophilia remains challenging, especially in patients who develop inhibitors (antibodies against replacement factors), complicating treatment and increasing the risk of joint damage. Non-replacement therapies improved significantly the quality of life of patients with inhibitors. Despite the significant improvement in both replacement and non-replacement therapies, there is still a portion of patients who experience joint bleedings, synovitis and pain.

While ultrasound (US) imaging is a valuable tool for detecting such bleeding, its use faces three major challenges: 1) in person visit to specialized centers for US exams; 2) under-treatment occurs when joint bleeding is asymptomatic or minimally symptomatic and thus goes unnoticed. 3) it is highly operator-dependent, requiring trained professionals. As a consequence, the cost of a misdiagnosis is elevated due to the risk of arthropathy progression ultimately leading to the need for orthopedic prosthetic surgery with high treatment and hospitalization costs.

How can we, as a global community, build consensus to define, diagnose, and manage joint bleeding in hemophilia more effectively and consistently?

A major barrier to progress is the lack of standardized definitions for primary joint lesions and consistent grading of disease severity.

Without harmonized criteria, clinical and research communities face difficulties in aligning diagnostic protocols and implementing personalized care strategies.
This fragmentation not only limits data comparability across studies but also hinders the development of effective, patient-centered treatment plans.

Progress in hemophilia care is limited by the absence of standardized criteria for identifying and grading primary joint lesions, leading to inconsistency in diagnosis, monitoring, and research. Variability in ultrasound acquisition—especially for complex joints like the elbow and ankle—further reduces data reliability. Current diagnostic tools lack the automation, consistency, and cross-joint applicability needed to support early detection of bleeding and joint changes. As a result, clinicians, researchers, and patients face fragmented workflows, limited comparability across studies, and delayed or suboptimal treatment decisions.

Bridging the Gap in Diagnosis and Care

These challenges highlight the urgent need for a solution that enables early, accurate, and accessible detection of joint bleeding.

Solution

Within the JoinMI consortium, through its extensive expertise in the fields of Medicine, Computer Science, and Economics will be leveraged to create a prototype system solution based on artificial intelligence (AI) and telemedicine, combined with ultrasonography (US) to detect early joint bleeding—hemarthrosis—in patients with hemophila.

JoinMi project aspires to identify and standardize cutting-edge AI approaches, techniques, and tools to enhance the management of hemophilia, with a particular emphasis on preserving and improving joint health.

Our project establishes a unified, global framework for defining, standardizing, and diagnosing joint bleeding in hemophilia by developing accessible tools that enhance both image acquisition and interpretation. We extend the Guided Acquisition of Joint ultrasound-GAJA system to enable patients to independently capture high-quality ultrasound images of the knee, elbow, and ankle using augmented reality, human–computer interaction, and deep learning models that identify key anatomical landmarks. In parallel, we advance the Computer Aided Diagnosis for hEmarThrosis-CADET diagnostic engine to automatically analyze multisite musculoskeletal ultrasound through improved annotation, model and domain adaptation, expert-validated automated labeling, and emerging capabilities such as direct effusion detection and explainable AI.

Together, these integrated innovations support earlier, more accurate, and more consistent assessment of joint health, empowering clinicians, patients, and researchers to reduce complications and improve long-term outcomes.