Haemophilia Genetic and Blood Testing Options
Understand the genetic and blood testing options for Haemophilia. Learn how these crucial tests diagnose the condition, determine its severity, and help with family planning.
Written by Dr. J T Hema Pratima
Reviewed by Dr. Shaik Abdul Kalam MD (Physician)
Last updated on 4th Sep, 2025
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Introduction
Haemophilia is a rare but serious genetic disorder that affects the blood’s ability to clot properly. If you or a loved one has been diagnosed with haemophilia or suspects having it, understanding the condition, its symptoms, and testing options can help manage it better. This article will guide you through the basics of haemophilia, its genetic causes, and the available blood tests to diagnose and monitor the condition.
What is Haemophilia?
Haemophilia is a bleeding disorder where the blood does not clot normally due to a deficiency in certain clotting proteins (factors). There are two main types:
- Haemophilia A – Caused by a lack of clotting factor VIII (most common type).
- Haemophilia B – Caused by a deficiency of clotting factor IX.
People with haemophilia may experience prolonged bleeding after injuries, surgeries, or even spontaneous internal bleeding in severe cases.
Symptoms of Haemophilia
The severity of symptoms depends on how low the clotting factor levels are. Common signs include:
- Frequent nosebleeds
- Easy bruising (large or deep bruises)
- Prolonged bleeding from minor cuts or dental work
- Joint pain and swelling (due to internal bleeding in joints)
- Blood in urine or stool
- Heavy or prolonged menstrual bleeding (in women with mild haemophilia)
Severe cases may lead to life-threatening bleeding episodes, especially in the brain or other vital organs.
Consult a Haematology
What Causes Haemophilia?
Haemophilia is a genetic disorder, meaning it is passed down through families. The defective gene is located on the X chromosome, which is why haemophilia primarily affects males.
- Males have one X chromosome (inherited from their mother). If this X chromosome carries the faulty gene, they will have haemophilia.
- Females have two X chromosomes. If one X chromosome has the defective gene, they are usually carriers (may not show symptoms but can pass it to their children).
In rare cases, haemophilia can occur due to a spontaneous genetic mutation with no family history.
Genetic and Blood Testing for Haemophilia
If haemophilia is suspected, doctors recommend specific tests to confirm the diagnosis and assess its severity.
1. Blood Tests
- Complete Blood Count (CBC) – Checks overall blood health but does not diagnose haemophilia.
- Clotting Factor Tests – Measures levels of Factor VIII or IX to determine the type and severity.
- Mild haemophilia – 540% of normal factor levels
- Moderate haemophilia – 15% of normal factor levels
- Severe haemophilia – Less than 1% of normal factor levels
- Activated Partial Thromboplastin Time (aPTT) – A screening test that detects prolonged clotting time.
2. Genetic Testing
Genetic testing helps identify the specific mutation causing haemophilia. This is useful for:
- Confirming diagnosis in uncertain cases.
- Identifying carriers (women who may pass the gene to their children).
- Prenatal testing (for pregnant women with a family history of haemophilia).
Managing Haemophilia
While there is no cure for haemophilia, proper treatment and lifestyle adjustments can help people lead active lives.
Medical Treatments
- Factor Replacement Therapy – Regular infusions of clotting factor concentrates (Factor VIII or IX) to prevent or stop bleeding.
- Gene Therapy – An emerging treatment that may offer longterm benefits by correcting the defective gene.
- Desmopressin (DDAVP) – A medication that helps release stored clotting factors in mild haemophilia A.
Lifestyle Tips
- Avoid high-risk activities (contact sports, heavy lifting) to prevent injuries.
- Exercise safely (swimming, walking) to strengthen muscles and protect joints.
- Maintain dental hygiene to prevent gum bleeding.
- Carry a medical ID stating your condition in emergencies.
When to See a Doctor?
Seek immediate medical help if you experience:
- Severe headaches or vision problems (signs of brain bleeding).
- Sudden swelling or pain in joints.
- Uncontrolled bleeding after an injury.
How Apollo 24|7 Can Help?
If you suspect haemophilia or need genetic testing, Apollo 24|7 offers:
- Expert consultations with haematologists.
- Comprehensive blood and genetic testing for accurate diagnosis.
- Personalized treatment plans to manage the condition effectively.
You can easily book a consultation or schedule a test through the Apollo 24|7 app or website.
Final Thoughts
Living with haemophilia can be challenging, but with the right care and precautions, individuals can manage the condition well. Early diagnosis through genetic and blood testing is crucial for effective treatment. If you have a family history of haemophilia or notice unusual bleeding symptoms, consult a doctor for proper evaluation.
Stay informed, stay safe, and take proactive steps towards better health!
Consult a Haematology
Consult a Haematology
Dr Abilash Jain
General Physician/ Internal Medicine Specialist
12 Years • MBBS,DNB(FM),MNAMS,FIAMS,CCGMG(GERIATRICS),DGM (GERIATRICS),PGCD(DIABETES,BOSTON UNIVERSITY),FID(DIABETICS UK)CCEPC(PALLIATIVE CARE),CCCC(CRITICAL CARE)
Visakhapatnam
Apollo Clinic Vizag, Visakhapatnam
Dr. Sasikamalam
General Practitioner
1 Years • MBBS
COIMBATORE
Apollo Sugar Clinic Coimbatore, COIMBATORE
Dr Sumanth R
General Physician
2 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru
Dr. Sushith C
General Physician
2 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru
Dr. Thorana Prakash M
General Physician
2 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru
Consult a Haematology
Dr Abilash Jain
General Physician/ Internal Medicine Specialist
12 Years • MBBS,DNB(FM),MNAMS,FIAMS,CCGMG(GERIATRICS),DGM (GERIATRICS),PGCD(DIABETES,BOSTON UNIVERSITY),FID(DIABETICS UK)CCEPC(PALLIATIVE CARE),CCCC(CRITICAL CARE)
Visakhapatnam
Apollo Clinic Vizag, Visakhapatnam
Dr. Sasikamalam
General Practitioner
1 Years • MBBS
COIMBATORE
Apollo Sugar Clinic Coimbatore, COIMBATORE
Dr Sumanth R
General Physician
2 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru
Dr. Sushith C
General Physician
2 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru
Dr. Thorana Prakash M
General Physician
2 Years • MBBS
Bengaluru
PRESTIGE SHANTHINIKETAN - SOCIETY CLINIC, Bengaluru