Improving access to haemophilia care through diagnosis

Haemophilia is a rare genetic bleeding disorder that affects the blood's ability to clot properly, leading to prolonged bleeding and/or spontaneous internal bleeding. This year’s World Haemophilia Day theme, ‘Diagnosis: First step to care’, highlights the essential role of accurate and timely diagnosis in improving outcomes for people with haemophilia and other bleeding disorders. For many people around the world, diagnosis remains a major barrier to accessing appropriate treatment and support. At Unilabs, we are committed to delivering high-quality laboratory testing, specialist expertise, and continued innovation to support patients through early detection and personalised care.

The critical importance of early detection

The main clinical symptom of haemophilia is bleeding. The severity and frequency of bleeding depend on the activity of the deficient Factor VIII. Individuals with mild haemophilia (FVIII >5%) and moderate haemophilia (FVIII 1–5%) usually do not experience spontaneous bleeding and may be unaware of their condition. Their increased risk of bleeding typically arises only during injuries, accidents, dental extractions, surgeries, or other invasive procedures, such as biopsies.

In contrast, severe haemophilia (FVIII <1%) often causes spontaneous bleeding without any apparent trigger. These patients frequently experience recurrent bleeding into joints (80–90%), muscles, and soft tissues (10–20%), which is why intramuscular injections are generally contraindicated. They may also experience bleeding from the skin and mucous membranes, haematuria (blood in urine), melena (blood in stool), and potentially life-threatening internal bleeding in organs, such as the brain, lungs, or digestive tract.

According to Associate Professor Hulikova, early diagnosis of haemophilia allows for prompt replacement of coagulation factors and prophylactic treatment, helping prevent recurrent bleeding and permanent joint damage.

Transforming diagnosis through genetic testing

Advancements in diagnostic technologies have greatly improved the ability of experts to detect and monitor haemophilia. Associate Prof. Hulikova says genetic testing and DNA analysis of FVIII genes now allow for precise identification of the disorder, while prenatal screening helps at-risk mothers understand potential outcomes. “In the laboratory, haemophilia is often indicated by a prolonged activated partial thromboplastin time (aPTT), whereas other tests—such as prothrombin time, thrombin time, fibrinogen levels, and platelet counts—remain normal,” she explains.

Today, coagulation and chromogenic assays are used to diagnose and classify patients based on FVIII activity. The one-stage coagulation test measures aPTT using plasma lacking FVIII. The two-stage coagulation test evaluates the activity of FV and FX proteins, which are generated in amounts directly proportional to the activity of FVIII in the sample. Similarly, chromogenic assays determine FVIII activity by measuring the amount of FX generated, following a principle similar to the two-stage method. 

A multidisciplinary approach to haemophilia management

Associate Prof. Hulikova says the management of haemophilia has seen significant advancements throughout its history. “Treating haemophilia was practically impossible in the past. However, today, what was once considered an incurable disease is now treatable.”

She explains that the management and prevention of haemophilia require a multidisciplinary approach, involving collaboration with geneticists for accurate diagnosis of this congenital bleeding disorder, orthopaedists for the treatment and prevention of haemarthrosis and haemophilic arthropathy, and physiotherapists to maintain musculoskeletal health and improve the quality of life of patients.

How modern medical advances support patients

A significant breakthrough for diagnosis and treatment occurred in the 1960s with the manufacture of plasma-derived coagulation factor VIII concentrates (CFCs). Associate Prof. Hulikova says, since 1992, recombinant coagulation factors (rCFs) have been developed through genetic engineering, providing a safe and effective alternative to plasma-derived concentrates. “The production process of rCFs has undergone gradual refinement, with a current preference for fourth-generation factors that offer extended action.”

She says the dawn of the new millennium brought further major advances in the treatment of haemophilia. “Extended half-life (EHL) factors are a new generation of coagulation proteins. Their longer effect is achieved by linking the coagulation factor to the Fc portion of human immunoglobulin, or with albumin, or by conjugation with polyethylene glycol (PEG). The benefits of prophylaxis with EHL factors include fewer injections, better adherence to treatment, improved protection against bleeding and joint damage, and a better prognosis, and quality of life.” 

She says non-factor drugs have also been developed to allow prophylaxis in patients with inhibitors. “A bispecific antibody is now available and can replace FVIII in coagulation activation. There are also drugs in clinical trials that work to reduce the effect of anticoagulant proteins in the blood, to promote clotting. These non-factor drugs can also be used in patients without inhibitors. Non-factor therapies are now also available. These use alternative haemostatic agents, such as Emicizumab, to replace the missing coagulation factor.”

Despite these advances, Associate Prof. Hulikova  says there is still a need for high-quality and safe coagulation factors, and therefore the development of new proteins with improved properties continues. “Given the progress made over the past two decades, and ongoing research, further improvements in treatment and quality of life for people with haemophilia are expected.”