Diagnosis of Haemophilia
The diagnosis of haemophilia relies on specialised blood tests that measure clotting factor activity, supported by a detailed personal and family history. Because the diagnosis of haemophilia can be life-changing, especially for children and families, it is essential that testing is accurate, timely, and followed by appropriate counselling.
Haemophilia is often suspected when a person experiences unusual or prolonged bleeding after minor injuries or procedures. In families with a known history, infants may be screened shortly after birth. Diagnosing the condition early allows treatment to start before major complications arise.
Initial Clinical Suspicion
Doctors may suspect haemophilia if a patient presents with:
Recurrent joint or muscle bleeds
Frequent bruising with no clear cause
Prolonged bleeding after dental work, circumcision, or vaccinations
Family history of bleeding disorders
In severe cases, these symptoms often begin in infancy or early childhood. In milder forms, the condition may not become apparent until surgery or trauma exposes abnormal bleeding.
Laboratory Tests for Diagnosis
The primary test used in diagnosing haemophilia is a clotting factor assay, which measures how much of a specific clotting factor is present in the blood.
Key Tests:
Activated Partial Thromboplastin Time (aPTT)
Measures the time it takes for blood to clot
Prolonged in haemophilia A or B
May be normal in mild cases
Prothrombin Time (PT)
Usually normal in haemophilia
Helps rule out other bleeding disorders
Factor VIII Assay
Used to diagnose haemophilia A
Low or absent levels confirm diagnosis
Factor IX Assay
Used to diagnose haemophilia B (Christmas disease)
Genetic Testing
Identifies specific gene mutations
Helps confirm diagnosis in ambiguous cases
Useful for prenatal testing or determining carrier status in females
These tests are conducted in specialised laboratories, as accuracy is critical.
Diagnosing Severity
Based on clotting factor levels, haemophilia is classified as:
Severe: <1% activity
Moderate: 1–5% activity
Mild: 5–40% activity
Knowing the severity guides treatment decisions and monitoring frequency.
Diagnosis in Newborns
In families with a history of haemophilia, diagnosis may occur:
Immediately after birth, via umbilical cord blood sampling
If there’s bleeding after circumcision or heel-prick tests
If bruises develop without trauma
In boys born to known carrier mothers, early testing is standard. In cases with no known family history, diagnosis is often delayed until symptoms appear.
Prenatal and Carrier Testing
Prenatal Diagnosis:
Performed via chorionic villus sampling or amniocentesis
Allows early identification of affected foetuses in at-risk pregnancies
Carries a small risk of bleeding or miscarriage
Carrier Testing:
Identifies females who carry the defective gene
Helps in family planning, genetic counselling, and risk assessment
In some cases, carriers have low factor levels and may need treatment
Differential Diagnosis
Several other conditions must be ruled out before confirming haemophilia:
Von Willebrand disease
Platelet function disorders
Liver disease, which affects clotting factor production
Vitamin K deficiency
These conditions require different management approaches, so precise diagnosis is essential.
Role of Haemophilia Treatment Centres
Specialised haemophilia treatment centres (HTCs) offer:
Comprehensive diagnostic services
Genetic counselling
Long-term care and education
Access to new treatments or clinical trials
In many countries, HTCs are the standard of care for ongoing monitoring and support.
Importance of Early Diagnosis
Early diagnosis is critical for:
Preventing joint damage through prophylactic treatment
Avoiding complications from surgery or trauma
Empowering families with knowledge and support
Ensuring safe vaccinations and medical interventions
With modern diagnostic tools, haemophilia can often be identified within weeks of birth.
Conclusion | Diagnosis of Haemophilia
The diagnosis of haemophilia is made through clinical evaluation and laboratory testing of clotting factor levels. Early and accurate diagnosis of haemophilia is essential to begin timely treatment, prevent complications, and provide the individual and their family with appropriate support. With proper diagnosis and monitoring, people with haemophilia can lead active and fulfilling lives.
