World Hemophilia Day, observed annually on April 17th, serves as a crucial reminder of the challenges faced by individuals with haemophilia and other bleeding disorders. This global event promotes awareness, early diagnosis, and improved treatment options. Hemophilia is a rare genetic disorder that affects blood clotting due to a deficiency of clotting factors. Recognizing the early signs of haemophilia, such as excessive bleeding, frequent bruising, or prolonged clotting, is crucial. Understanding how to diagnose haemophilia through specialized tests can ensure timely medical intervention and prevent severe complications.
Also Read: World Haemophilia Day 2024:Theme, Significance, And 5 Common Myths And Facts
In this blog, we discuss five essential diagnostic tests used to detect haemophilia and ensure timely intervention.
Theme and Significance of World Hemophilia Day 2025
The World Hemophilia Day 2025 theme, "Access for All: Women and Girls Bleed Too," sheds light on the often-overlooked struggles of women and girls with bleeding disorders. It emphasizes the urgent need for fair and inclusive healthcare, ensuring that everyone—regardless of gender—receives proper diagnosis, treatment, and support.
Why It Matters?
- Raises awareness about the unique challenges faced by women and girls with hemophilia and other bleeding disorders
- Encourages global efforts to ensure equal access to diagnosis, treatment, and medical support
- Promotes advocacy for better healthcare policies, research funding, and gender-inclusive care
- Empowers communities by spreading knowledge on early diagnosis and management for all individuals, regardless of gender
Recognizing the significance of this day allows us to work toward eliminating disparities in haemophilia care, ensuring that essential treatments reach those in need, irrespective of gender.
The Importance of Early Diagnosis in Hemophilia
Early diagnosis of haemophilia is crucial in preventing severe complications and improving the quality of life for those affected. Since haemophilia is a genetic bleeding disorder that impairs blood clotting, consulting a doctor for hemophilia screening and early diagnosis is essential. Early detection enables medical intervention to prevent excessive bleeding, joint damage, and life-threatening haemorrhages.
Diagnostic tests such as clotting factor assays, genetic testing, and coagulation studies help confirm the condition and determine its severity. Early identification also enables personalized treatment plans, including clotting factor replacement therapy, lifestyle adjustments, and preventive care.
Moreover, for families with a history of haemophilia, early screening and genetic counselling play a vital role in managing the disorder proactively. Raising awareness about early diagnosis ensures that individuals receive the necessary medical support, helping them lead healthier, more active lives.
If you are wondering about the best tests for hemophilia, here are five essential diagnostic procedures that help in early identification and management of this bleeding disorder.
Complete Blood Count (CBC)
A Complete Blood Count (CBC) is often the first step in diagnosing haemophilia. While this test does not directly confirm haemophilia, it helps assess overall blood health by measuring red blood cells, white blood cells, platelets, haemoglobin, and hematocrit levels.
How It Helps?
- Detects abnormal platelet count and hemoglobin levels
- Rules out other blood disorders that may cause excessive bleeding
- Provides a baseline for further testing
Activated Partial Thromboplastin Time (aPTT) Test
The aPTT test measures the time it takes for blood to clot by evaluating the function of clotting factors, including factors VIII and IX. Since individuals with haemophilia have deficiencies in these factors, the aPTT test helps identify prolonged clotting times.
How It Helps?
- Detects prolonged clotting time, a key sign of haemophilia
- Differentiates between haemophilia A and B based on factor deficiencies
- Aids in determining the severity of the disorder
Prothrombin Time (PT) Test
Unlike the aPTT test, the PT test evaluates the external pathway of blood clotting and measures how long it takes for blood to clot. This test is often combined with the aPTT test to distinguish between different bleeding disorders.
How It Helps?
- Identifies clotting disorders unrelated to haemophilia
- Helps rule out liver disease or vitamin K deficiencies as potential causes of bleeding issues
- Assists in forming a comprehensive clotting profile
Clotting Factor Assays
Clotting factor assays are the definitive diagnostic tests for haemophilia. These tests measure the specific levels of clotting factors VIII and IX to determine whether a person has haemophilia A (factor VIII deficiency) or haemophilia B (factor IX deficiency).
How It Helps?
- Confirms the presence of haemophilia and its type
- Determines the severity of the condition (mild, moderate, or severe)
- Guides treatment plans, including factor replacement therapy
Genetic Testing
Genetic testing is essential for individuals with a family history of haemophilia. This test analyzes mutations in the F8 gene (haemophilia A) or the F9 gene (haemophilia B) to confirm a genetic predisposition.
How It Helps?
- Detects carriers of the haemophilia gene, especially in females
- Provides crucial information for family planning and genetic counselling
- Helps diagnose haemophilia in newborns or prenatal screening
Conclusion
On World Hemophilia Day 2025, raising awareness about early diagnosis and testing is crucial to improving outcomes for individuals with this bleeding disorder. By utilizing advanced diagnostic tests such as CBC, aPTT, PT, clotting factor assays, and genetic testing, healthcare providers can accurately diagnose and manage haemophilia, ensuring a better quality of life for patients.
If you or someone you know experiences unexplained bleeding, frequent bruising, or has a family history of haemophilia, it is crucial to understand how to diagnose haemophilia through specialized tests. Seeking early medical evaluation ensures accurate diagnosis, timely treatment, and a better quality of life.
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(This article is reviewed by Kalyani Krishna Chief Content Editor)
Author Profile
Soumita Basu:
Soumita Basu holds a Bachelor’s Degree in Pharmacy and is keenly interested in Ayurveda, home remedies, yoga, fitness, diagnostics, and beauty. With nearly 6 years of experience, she produces evidence-based health content, including articles, videos, and infographics, to provide valuable insights to her audience.
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