AI Summary Overview
What is Haemophilia?
Haemophilia is an inherited bleeding disorder in which the blood does not contain enough functional clotting factor VIII or IX. People with haemophilia do not usually bleed faster than others, but bleeding may continue for longer. Severe haemophilia may cause spontaneous bleeding inside the joints, muscles or other organs without a noticeable injury.
The condition is lifelong and non-contagious. Haemophilia mainly affects males, but females may also have haemophilia or clinically significant bleeding symptoms.
What are the Types of Haemophilia?
The types of haemophilia are as follows:
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Haemophilia A Haemophilia A is caused by a deficiency or reduced activity of clotting factor VIII. It is the more common inherited form and may be mild, moderate or severe.
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Haemophilia B Haemophilia B is caused by a deficiency or reduced activity of clotting factor IX. It is also called Christmas disease and has symptoms similar to haemophilia A.
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Acquired Haemophilia Acquired haemophilia is a separate, non-inherited condition in which the immune system produces antibodies against a clotting factor, usually factor VIII. It may occur during pregnancy, after childbirth, with autoimmune disorders, certain cancers or without an identifiable cause.
Stages of Haemophilia
Haemophilia has no formally recognised stages. It is classified by severity based on the level of clotting factor in the blood. These stages of haemophilia are given in the table below:
| Severity | Factor Level | Typical Bleeding Pattern |
| Mild | 5% - <40% of normal | Prolonged bleeding mainly after major injury, surgery or dental treatment |
| Moderate | 1% - 5% of normal | Bleeding after minor injuries with occasional spontaneous bleeding |
| Severe | Less than 1% of normal | Frequent spontaneous bleeding into joints and muscles |
How Common is Haemophilia in India?
India faces a huge burden of haemophilia. As per reports, India has a haemophilia prevalence of 1 in 10,000 for a population of 1.4 billion people, which comes to around 1 to 1.5 lakh cases. However, only 29,000 to 30,000 patients have been diagnosed with haemophilia, which is merely 20% of expected cases. This shows a gap in reported cases, which is likely due to a lack of awareness and availability of diagnostic centres across the country.
What are the Symptoms of Haemophilia?
Symptoms of haemophilia will vary with the level of clotting factor. Some of the early warning signs and severe symptoms of haemophilia are listed below:
| Early Warning Signs | Advanced Stage Symptoms |
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Diseases Similar to Haemophilia
Some conditions exhibit similar symptoms to those of haemophilia, related to blood clotting and other features. However, they differ in their causes, treatment approaches and severity. The table below gives a comparative overview of two such conditions alongside haemophilia for your understanding:
Haemophilia Vs. von Willebrand Disease Vs. Immune Thrombocytopenia
| Feature | Haemophilia | von Willebrand Disease | Immune Thrombocytopenia |
| How It Happens | Factor VIII or IX deficiency | Deficient or abnormal von Willebrand factor | Immune destruction of platelets |
| Location | Clotting system, joints and muscles | Blood vessels and platelet adhesion | Blood platelets and spleen |
| Associated Symptoms | Joint bleeds, muscle bleeds, prolonged bleeding | Nosebleeds, gum bleeding, heavy periods | Petechiae, bruising, nose or gum bleeding |
| Severity | Mild to severe by factor level | Usually mild to moderate; type 3 may be severe | Varies with platelet count and bleeding |
| Can It Be Reversed? | No, but manageable | No, but manageable | Sometimes; remission may occur |
What Causes Haemophilia?
Some of the causes of haemophilia are:
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Genetic Mutation Haemophilia A is caused by a change in the F8 gene, while haemophilia B is caused by a change in the F9 gene. These genes provide instructions for producing clotting factors VIII and IX.
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X-Linked Inheritance Haemophilia A and B are usually inherited through the X chromosome. When a mother carries the affected gene and the father is unaffected, each son has a 50% chance of inheriting haemophilia, while each daughter has a 50% chance of inheriting the genetic change. A daughter who inherits the change may have no symptoms, be a symptomatic carrier or have mild, moderate or severe haemophilia, depending partly on her clotting factor level.
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New Genetic Changes Haemophilia may occur without a known family history when a new genetic change develops in the affected person or a parent.
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Autoimmune Antibodies Acquired haemophilia occurs when the immune system mistakenly produces antibodies that interfere with a clotting factor. It is not inherited and requires a different treatment approach.
What are the Complications of Haemophilia?
Failure to appropriately manage haemophilia may result in several long-term problems, such as:
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Chronic Joint Disease: Repetitive bleeding into joints causes damage to cartilage, inflammation, eventual deformation and chronic damage to the joints. This is one of the most common long-term complications of haemophilia. Chronic joint damage also increases the risk of arthritis.
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Muscle Damage: Repetitive bleeding into muscles may cause contractures, loss of function, scar tissue and fibrosis.
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Intracranial Haemorrhage: Bleeding in the brain causes stroke and has the potential to cause death or lasting brain damage, a particularly fatal complication.
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Chronic Pain and Reduced Mobility: Long-term joint and muscle damage may interfere with walking, exercise, work and daily activities.
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Compartment Syndrome: Deep muscle bleeding may compress nerves and blood vessels and requires urgent treatment.
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Bloodborne Infections: Before 1990, HIV and Hepatitis C were both common, as blood products were unscreened.
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Kidney Damage: A history of repeated bleeding in the urine can cause damage to the kidneys in the long run.
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Psychological Problems: Mental well-being of the patient may be affected due to the chronic pain, frequent visits to the hospital and limits on physical activity.
When Should I See My Healthcare Provider?
You or your child requires a doctor when they present with any of the following:
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Any head, neck or abdominal injury
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Severe headache, vomiting, confusion or unusual sleepiness
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Sudden joint pain, swelling, warmth or restricted movement
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Persistent muscle pain, swelling or tightness
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Blood in the urine, black stools or vomiting blood
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Bleeding that does not respond to the prescribed treatment
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Breathing or swallowing difficulty
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An injury, operation or dental procedure requiring a treatment plan
A person with haemophilia should contact their hospital promptly after a significant injury, even when no external bleeding is visible.
How is Haemophilia Diagnosed?
To diagnose haemophilia, the doctor relies on the patient's history as well as blood tests. These include:
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Medical and Family History The first step is to investigate the patient's personal history and the history of bleeding in the family. A family history of haemophilia is highly suggestive.
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Clotting Factor Tests A blood test which directly quantifies levels of specific clotting factors (factor VIII or IX). This determines the specific type of haemophilia and the severity. Activated Partial Thromboplastin Time (APTT) APTT is a measure of the rate at which blood clots via the intrinsic pathway. If the APTT is prolonged, a deficiency of a clotting factor may be suspected.
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Complete Blood Count (CBC) A CBC will screen for other abnormalities of the blood and examine the general health of the blood.
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Inhibitor Screening This test will screen for inhibiting antibodies that may be interfering with replacement therapy. The test is regularly performed in those receiving replacement therapy.
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Prenatal and Genetic Testing Carrier females can be screened antenatally, pre-pregnancy, or postnatally. Genetic testing can also be used to determine which mutation is present within the family. When used with newborn screening, the baby can be diagnosed immediately.
Diagnostic Overview Table
| Test | Purpose |
| Medical and Family History | Identifies an inherited bleeding pattern |
| Complete Blood Count | Assesses overall blood health |
| Prothrombin Time | Evaluates one clotting pathway |
| Activated Partial Thromboplastin Time | Screens the intrinsic clotting pathway |
| Mixing Study | Distinguishes deficiency from an inhibitor |
| Factor VIII Activity Test | Confirms haemophilia A |
| Factor IX Activity Test | Confirms haemophilia B |
| von Willebrand Factor Tests | Excludes von Willebrand disease |
| Inhibitor Assay | Detects treatment-neutralising antibodies |
| Genetic Testing | Identifies the F8 or F9 gene change |
| Prenatal Testing | Assesses an at-risk pregnancy |
How is Haemophilia Managed?
Currently, there is no cure for haemophilia, but it can be managed effectively with appropriate treatment. Some of the ways to manage haemophilia are:
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Clotting Factor Replacement Therapy
The standard treatment involves replacing the missing clotting factor by injecting it into the bloodstream. Clotting factor replacement can be:
- On-demand: To treat an active bleed.
- Prophylactic: Injections are given on a scheduled basis to prevent bleeding. This is generally prescribed for severe haemophilia.
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Desmopressin (DDAVP) This is a manmade version of a hormone used to trigger the release of stored Factor VIII into the bloodstream. It is used for mild haemophilia. This must be given as an injection or as a nasal spray before and after an injury or medical procedure.
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Non-Factor Replacement Therapies These new treatments may be used to prevent bleeding in haemophilia A, including in selected patients with inhibitors. It is injected under the skin but does not directly treat a major active bleed.
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Physiotherapy This is essential for preventing joints from becoming stiff, building the strength of muscles around the joints, and also to regain mobility post joint bleeding.
Haemophilia in Females
Women are not always unaffected carriers. Depending on their clotting-factor level and bleeding history, females may have mild, moderate or severe haemophilia or may be classified as symptomatic or asymptomatic carriers. Heavy bleeding during menstruation or bruising after delivery or surgery can be symptoms in carriers.
Carrier testing and genetic counselling should be suggested for women who have a history of haemophilia in their families. During the pregnancy, an obstetrician and a haematologist would ideally have joint management of the patient.
Common Medicines Used to Treat Haemophilia
The following medicines and biological products are used to manage haemophilia care:
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Human Coagulation Factor VIII: A plasma-derived factor VIII preparation used to prevent or control bleeding in haemophilia A.
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Octocog Alfa: A recombinant factor VIII medicine used for on-demand treatment, surgery and prophylaxis in haemophilia A.
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Turoctocog Alfa Pegol: An extended half-life factor VIII medicine that requires less frequent administration than some standard factor products.
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Human Coagulation Factor IX: A plasma-derived factor IX preparation used for bleeding prevention and treatment in haemophilia B.
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Nonacog Alfa: A recombinant factor IX medicine used for on-demand treatment, surgery and prophylaxis in haemophilia B.
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Emicizumab: A subcutaneous preventive medicine for haemophilia A. It may be used in people with or without factor VIII inhibitors, but it does not treat an active major bleed.
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Desmopressin: Desmopressin may temporarily increase factor VIII levels in selected patients with mild haemophilia A. It does not treat haemophilia B and should be used only after response testing.
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Tranexamic Acid: Tranexamic acid helps control bleeding from the mouth, nose or dental procedures. It should not be used for urinary tract bleeding unless specifically advised by a specialist.
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Eptacog Alfa Activated: This bypassing medicine may control bleeding in patients with factor VIII or IX inhibitors.
Note: The list primarily applies to inherited haemophilia A and B. Acquired haemophilia requires separate treatment to control bleeding and suppress the abnormal immune response. Treatment products should only be administered under the guidance of a haematologist or haemophilia treatment centre.
Living With Haemophilia in India: Daily Challenges and Caregiving
Living with haemophilia may affect mobility, education, work, emotional well-being and family finances. Regular treatment and support can help prevent bleeding and maintain independence. Some of the challenges and caregiving points for haemophilia patients are as follows:
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Challenges
- Recurrent Bleeding: Joint and muscle bleeds may cause pain, stiffness and reduced mobility.
- Education and Work Disruption: Treatment visits and bleeding episodes may lead to school or work absence.
- Limited Treatment Access: Patients may need to travel long distances to reach a haemophilia treatment centre.
- Emotional Stress: Fear of bleeding, disability or treatment shortages may cause anxiety and social isolation.
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Caregiving and Patient Well-Being
- Bleeding Action Plan: Caregivers should know whom to contact and what treatment is required after an injury.
- Treatment Support: Families may help manage appointments, prophylaxis schedules and medicine storage.
- Joint Protection: Safe activity, healthy weight and prescribed physiotherapy can support joint health.
- Emergency Identification: A medical identification card or bracelet can inform healthcare professionals about the condition.
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Expenses
- Travel and Wage Loss: Repeated hospital visits may involve transport expenses and missed work.
- Consultations and Tests: Factor assays, inhibitor tests and specialist follow-ups may add to costs.
- Treatment Access: Factor or non-factor medicines may be free in some state programmes, but can be costly when purchased privately.
- Rehabilitation Costs: Physiotherapy, mobility aids and treatment for damaged joints may create long-term expenses.
What is the Prognosis for Haemophilia?
Haemophilia is a lifelong disorder. But early diagnosis, regular prophylaxis and comprehensive care can substantially reduce bleeding, joint damage and disability. Many people receiving reliable treatment can attend school, work, exercise safely and lead active lives.
The prognosis for haemophilia in India depends on access to treatment and specialist centres. Patients with recurrent, untreated bleeding or inhibitors may require more intensive care.
How Can I Prevent Haemophilia?
While haemophilia itself cannot be prevented as it is inherited, certain measures can be taken to lessen the occurrence of complications and serious bleeding episodes. These may include:
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Following the prescribed prophylaxis schedule
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Treating joint and muscle bleeds promptly
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Avoiding aspirin and unprescribed anti-inflammatory medicines
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Maintaining good dental hygiene
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Participating in safe, low-impact physical activity
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Maintaining a healthy weight
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Wearing suitable protective equipment
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Informing healthcare providers before surgery or dental treatment
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Carrying medical identification
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Seeking genetic counselling when haemophilia runs in the family
Treatment Cost of Haemophilia in India
Haemophilia treatment costs depend on the type and severity, frequency of bleeding, diagnostic tests, inhibitor status, medicine required and access to publicly funded care. Factor concentrates are provided free at some government-supported centres, while private treatment can be considerably more expensive.
An overview of the treatment costs of haemophilia in India is given in the table below:
| Treatment Component | Approximate Cost in India |
| Haematologist Consultation | ₹800 - ₹2,500 per visit |
| Coagulation Profile - PT/INR and aPTT | ₹500 - ₹1,200 |
| Factor VIII Activity Test | ₹2,300 - ₹2,500 |
| Factor IX Activity Test | ₹2,100 - ₹2,600 |
| Factor VIII Inhibitor Assay | ₹6,000 - ₹15,000 |
| Physiotherapy | ₹400 - ₹1,500 per session |
| Patient-Level Annual Cost Excluding Factor Concentrates | ₹60,000 - ₹1,00,000 |
| Cost per Bleeding Episode Excluding Factor Concentrates | ₹5,000 |
| Factor Replacement or Emicizumab | ₹50,000 - ₹3,00,000 per vial |
| Hospitalisation | ₹5,000 - ₹15,000 per day |
| Joint Surgery | ₹1,50,000 - ₹5,50,000 |
Note: Treatment costs mentioned above are estimates. The actual cost may vary based on the location, hospital, treatment, medicines used and duration of hospital stay. Consult a healthcare provider for more accurate estimates.
Does Health Insurance Cover Haemophilia?
Yes. Health insurance plans cover haemophilia treatment in India. If you need to get hospitalised due to bleeding episodes, or even if you need joint surgery, these plans will cover the expenses. Coverage for blood transfusions and genetic conditions are also included. Day care procedures such as factor transfusions are also covered under most plans.
However, physiotherapy sessions, outpatient treatments, consultations, medicines and tests will be covered only with the OPD cover. Hence, it is important to check the policy wordings to know exactly what is covered.
Critical illness insurance plans can cover chronic bleeding disorders as well as complications of haemophilia. Once the illness is diagnosed, you receive a sum of money which you can utilise for the long-term treatment of your condition.
However, a waiting period of 12 to 36 months may be applicable to pre-existing illnesses. Critical illness plans may come with a waiting period of up to 90 days.
How Much Health Insurance Coverage is Needed for Haemophilia Treatment?
The amount of health insurance coverage needed for haemophilia treatment depends on disease severity, treatment access, inhibitor status, frequency of hospitalisation and whether outpatient factor therapy is included.
A sum insured of around ₹10 lakh may help cover hospitalisation expenses, emergency treatment and procedures involved in the treatment of haemophilia. However, people with severe haemophilia, inhibitors or established joint damage may consider coverage of at least ₹15 to ₹20 lakh.
It is imperative to evaluate plan inclusions and select a plan covering rare genetic conditions to remain protected in the future.
FAQs
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Q1. What is haemophilia in simple terms?
Ans: Haemophilia is an inherited disease in which your blood does not clot effectively. There are not enough clotting factor proteins in the body, which results in prolonged bleeding after injury, and in its severe forms, spontaneous internal bleeding. -
Q2. Can a girl have haemophilia?
Ans: Yes. Girls may have mild, moderate or severe haemophilia when their factor VIII or IX levels are reduced. Others may be symptomatic carriers despite having factor levels above 40%. Heavy periods, easy bruising and prolonged bleeding after childbirth, surgery or dental treatment may occur in females with haemophilia. -
Q3. Is haemophilia curable?
Ans: Currently, there is no cure for hereditary haemophilia. However, clotting factor replacement, preventive treatment, emicizumab and comprehensive care can control bleeding effectively.
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References
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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12083209/
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https://irdai.gov.in/health-dept
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