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

Bleeding patterns vary significantly depending on disease severity

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 becomes apparent only during injuries, accidents, dental extractions, surgery 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%)

For this reason, intramuscular injections are generally contraindicated.

Other possible manifestations include:

• Bleeding from the skin and mucous membranes

• Haematuria, or blood in the urine

• Melena, or blood in the stool

• Potentially life-threatening internal bleeding involving organs such as the brain, lungs or digestive tract

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

Transforming diagnosis through genetic testing

Laboratory and molecular testing enable more precise identification and classification

Advances in diagnostic technologies have greatly improved the ability to detect and monitor haemophilia.

Associate Professor Hulikova explains that genetic testing and DNA analysis of FVIII genes now allow precise identification of the disorder, while prenatal testing can help at-risk mothers better understand possible 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.”

Today, coagulation and chromogenic assays are used to diagnose haemophilia and classify patients according to FVIII activity.

The one-stage coagulation test measures aPTT using plasma deficient in FVIII.

The two-stage coagulation test evaluates the activity of FV and FX proteins, which are generated in amounts directly proportional to FVIII activity in the sample.

Similarly, chromogenic assays determine FVIII activity by measuring the amount of FX generated, following a principle comparable to the two-stage method.

A multidisciplinary approach to haemophilia management

Effective care requires collaboration across several medical specialties

Associate Professor Hulikova says haemophilia management has advanced significantly throughout its history.

“Treating haemophilia was practically impossible in the past. However, today, what was once considered an incurable disease is now treatable.”

Management and prevention require a multidisciplinary approach involving collaboration with:

• Geneticists, for accurate diagnosis of the congenital bleeding disorder

• Orthopaedic specialists, for the treatment and prevention of haemarthrosis and haemophilic arthropathy

• Physiotherapists, to maintain musculoskeletal health and improve patients’ quality of life

How modern medical advances support patients

New generations of factor and non-factor therapies are expanding treatment options

A major breakthrough in haemophilia diagnosis and treatment came in the 1960s with the development of plasma-derived coagulation Factor VIII concentrates (CFCs).

Since 1992, recombinant coagulation factors (rCFs) have been developed using 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.”

The beginning of the new millennium brought further major advances.

Extended half-life (EHL) factors are a new generation of coagulation proteins whose longer-lasting effect can be achieved by linking the coagulation factor to:

• The Fc portion of human immunoglobulin

• Albumin

• Polyethylene glycol (PEG)

According to Associate Professor Hulikova, the benefits of prophylaxis with EHL factors include:

• Fewer injections

• Better adherence to treatment

• Improved protection against bleeding and joint damage

• Better prognosis

• Improved quality of life

Non-factor therapies have also been developed, including options for 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 therapies may also be used in certain patients without inhibitors.

Non-factor approaches include alternative haemostatic agents such as Emicizumab, which can functionally replace the missing coagulation factor.

Continued innovation in haemophilia care

Research is focused on improving safety, convenience and long-term quality of life

Despite major advances, Associate Professor Hulikova notes that there remains a need for high-quality and safe coagulation factors, and 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.”