Hemophilia

People with hemophilia bleed longer than others. The symptoms of hemophilia include:

• Spontaneous bleeding into joints, muscles, and soft tissues
• Bleeding into the joint cavity
• Prolonged bleeding after surgery or trauma
• Unexplained bleeding in the digestive tract
• Blood in urine or stool
• Nosebleeds
• Excessive bruising
• Presence of hematoma (clots)
• Extensive bleeding after childbirth
• Heavy and prolonged menstrual bleeding
• Painful and swollen joints (most commonly affected joints are knees, elbows, ankles, shoulders, wrists, and hips)
• Restricted motion of joints
• Abdominal pain
• Unexplained irritability in babies, often due to internal bleeding

Hemophilia is a genetic disease that is characterized by the absence or deficiency of certain clotting factors from birth. The possible reasons for these alterations can be:

• Inheritance (passed from parent to child)
• Mutation (change in the DNA sequence)

The clotting factors that are involved in the pathophysiology of hemophilia are FVIII, FIX, and XI.

The following factors increase the risk of hemophilia:

• Family history: Hemophilia runs in families and is strongly associated with a positive family history.
• Interesting Tidbit: Hemophilia is often called "the royal disease" due to its prevalence in European royal families in the 19th and 20th centuries. Queen Victoria of England is believed to have been a carrier of hemophilia B, passing it down to her descendants.
• Gender: Males are more prone to hemophilia. Baby boys born to hemophilic parents or those with family members affected by hemophilia are recommended to be tested soon after birth.
• Race: Individuals in regions where consanguineous marriages, such as in Egypt, are common have a higher chance of developing hemophilia. Additionally, Ashkenazi Jews are more likely to have factor XI deficiency, known as hemophilia C.

Hemophilia should be diagnosed in individuals with a family history of the condition or who exhibit potential symptoms. The diagnosis consists of the following:

1. Screening tests

   The screening tests consist of simple blood tests to check the level of blood clotting. These include:

   • Complete blood count: Individuals with hemophilia have a normal CBC. However, prolonged bleeding can cause a decrease in the level of hemoglobin.
   • Bleeding time: This measures the time taken by the blood to clot after bleeding. It is often normal in hemophilia.
   • Prothrombin time: PT is the time in seconds that it takes plasma to clot. It is usually normal in cases of hemophilia.
   • Activated partial thromboplastin time (APTT): This measures the blood's ability to clot in hemophilia. APTT is typically prolonged due to deficiencies in clotting factors.
2. Factor assays

   These tests determine the activity of the clotting factors. There are three types of factor assays for hemophilia:

   • Factor VIII (hemophilia A)
   • Factor IX (hemophilia B)
   • Factor XI (hemophilia C)
3. Prenatal testing

   Prenatal testing is conducted by two methods:

   • CVS (chorionic villous sampling): A sample of tissue is taken from the placenta to test for genetic abnormalities.
   • Amniocentesis: This involves an examination of amniotic fluid (fluid around the baby).

   Note: Pregnant women should undergo detection of hemophilia in the developing baby if they:

   • Are hemophilic
   • Have another child who has hemophilia
   • Exhibit symptoms of hemophilia

   These tests should be done between weeks 8 to 10.

4. Imaging tests

   These are done to check for internal bleeding. The tests recommended are:

   • CT scan of the head or MRI of the brain: To rule out intracranial bleeding
   • Ultrasonography of joints: Recommended in individuals with recurrent joint bleeding
   • CT scan or MRI of the chest: To detect bleeding in the chest
   • CECT scan or MRI of the abdomen: To check for abdominal bleeds

Looking for hassle-free testing with accurate results? Book your appointment with Tata 1 mg.

Due to its genetic nature, hemophilia cannot be prevented through any lifestyle modifications. However, its transmittance can be prevented through:

• Prenatal intrauterine diagnosis with termination of pregnancy as an option
• IVF with egg/sperm of healthy donors

Want to understand the IVF procedure? Listen to our experts explain the step-by-step process. Watch this video.

Hemophilia cannot be cured due to its genetic nature. The treatment focuses on replacing the missing protein and eliminating the bleeds associated with the disorder. Management consists of:

Management of Bleeding

It includes controlling bleeding in suspected or confirmed cases.

Infusion of factor concentrates and whole blood is administered as per need and availability. Bleeding should cease within two hours of the onset of symptoms to avoid complications.

Here are some tips to stop bleeding.

Prophylactic Management (Regular Treatment Regimen)

This involves treatment options aimed at preventing episodes of bleeding.

It is typically prescribed to individuals with severe hemophilia.

Regular intravenous (IV) infusion of the missing clotting factors is given to increase their levels.

Factor Concentrates

• Plasma-derived: Prepared from donor blood, it is used to control spontaneous bleeding due to its rapid action. A common example is human coagulation factor VIII.
• Recombinant factors: Plasma-derived products are more susceptible to viral infections (HIV and hepatitis). Recombinant clotting factors are used to overcome this issue, serving the same purpose.

Blood Transfusion

Whole blood is also used to control bleeding as it contains all the clotting factors.

Adjuvant Therapies

• Tranexamic acid: Blocks the breakdown of blood clots, preventing bleeding. Mainly used to control mucosal bleeding.
• Desmopressin (DDAVP): Releases stored Factor VIII from blood vessels, primarily used in mild hemophilia.
• Fibrin sealant: Available as sprays for application on open wounds to control bleeding.
• Factor eight inhibitor bypassing activity (FEIBA): Composed of clotting factors II, VII, IX, and X.
• Antispasmodic analgesics: Used to control pain during bleeding episodes. Common examples include:
  • Paracetamol
  • Dextropropoxyphene
  • Codeine
  • Buprenorphine
  • Tramadol
• Aminocaproic acid: Prevents blood clots and is mainly prescribed before dental surgery. Also given to manage nose and mouth bleeds.
• Calcium alginate: Derived from seaweed and used in dressings for wound repair.

Novel Therapies

• Gene therapy: Aims to correct diseases by introducing functional genes, though it is costly and has limited application.
• Monoclonal antibodies (non-factor replacement therapies): Proteins made in labs that work similarly to the body's proteins. One available therapy is emicizumab.
• Hemostatic rebalancing therapies: Aim to restore the natural balance in blood clotting by correcting deficiencies or imbalances. Examples include:
  • Fitusiran
  • Concizumab

Unable to get your medications on time? Order online from India’s largest and most trusted online pharmacy for guaranteed delivery. Upload your prescription.

The bleeding episodes can be prevented by adopting the following measures at home:

• Maintaining good oral hygiene prevents gum and tooth disease, which can lead to excessive bleeding. Try our extensive range of oral care products to give your teeth the love they deserve.
• Using protective gear during activities to prevent injuries that could cause bleeding.
• Exercising regularly to strengthen joints and reduce bleeding risk. Want to keep your joints healthy? Try these 5 simple techniques.
• Avoid high-impact sports or activities that could cause injury.
• Manage stress, as it can affect overall health and bleeding tendencies.
• Stay hydrated to maintain overall bodily functions and health. Learn how to stop bleeding and give first aid.

Clotting factors are produced by the liver. A nutrient-dense diet that is high in fiber, calcium, and iron plays a pivotal role in reducing complications. Dietary recommendations to be followed include:

• Have iron-rich food. Excessive bleeding can lead to anemia, so include iron-rich foods like lean red meat, poultry, spinach, broccoli, beans, grains, and raisins in your diet to support blood production.
• If unable to meet nutritional needs, try our exclusive range of vitamin and mineral supplements after consulting with your doctor.
• Add Vitamin C. Vitamin C boosts iron absorption and aids wound healing, so include fresh fruits and vegetables like guava, strawberries, papaya, kiwi, spinach, carrots, and bell peppers in your diet.
• Switch to low-fat options. Excessive fat can harm the liver and affect clotting factor production; reduce fat by choosing low-fat dairy, opting for baking, boiling, or grilling, and using vegetable oils instead of butter or animal fats.
• Increase the intake of whole grains. Whole grains are a good way to satiate hunger and also stabilize blood glucose levels. Add oats, barley, whole wheat, bran, brown rice, or pasta.

The major complication with hemophilia is the development of antibodies against the externally administered factors.

It is estimated that around 15% to 20% of individuals develop these inhibitors, making treatment extremely difficult.

Other complications include:

• Musculoskeletal deformities: Affecting joints, ankles, knees, and elbows.
• Pseudotumors: Tumor-like structures that contain coagulated blood and are surrounded by a thick wall, primarily developing in long bones and the pelvis.
• Fractures: Chronic and severe joint impairment resulting from bleeding can also lead to fractures.
• Bloodborne infections: Individuals may develop bloodborne infections such as HIV and hepatitis C due to the infusion of contaminated blood and factor concentrates.

Here are 8 types of hepatitis screening you must know. Click to know.

Hemophilia is a lifelong disorder with life-threatening complications. Individuals often experience a poor quality of life due to the severity of symptoms. The following measures can aid in faster recovery and help reduce complications:

Assess the Condition of Joints

Joints are the primary organs affected in hemophilia. Caregivers should monitor for:

• Movement of joints
• Pain or stiffness in a joint, with or without bruising
• Swelling and warmth in a joint, with or without bruising
• Unusual fussing and crying
• Using only one limb, such as crawling with one straight leg

Tips to Alleviate Joint Injury and Pain

• Take proper rest
• Keep the limb elevated to increase blood supply
• Compress the limbs using stockings or wraps
• Apply ice

Keep an ice pack at home.

Go for Prenatal Testing

Pregnant women should undergo testing for hemophilia in the developing fetus if there is a family history of the condition.

Look for Hemophilia Treatment Centers (HTCs)

Hemophilia treatment centers provide comprehensive care, focusing on preventive services to minimize complications. They are staffed with skilled hematologists, nurses, physical therapists, social workers, and sometimes other specialists such as dentists and dieticians. Find a nearby center for expert care.

Get an Annual Comprehensive Health Checkup

Individuals with severe hemophilia are at high risk for internal bleeding without visible symptoms, making annual comprehensive check-ups essential to prevent life-threatening incidents such as brain or abdominal bleeds. Regular evaluations for bloodborne infections are also vital due to the increased risk from frequent transfusions.

Be Proactive and Book Your Comprehensive Package Today

Get Yourself Vaccinated

Blood transfusions increase the risk of developing infectious diseases such as Hepatitis A and B. These diseases can be prevented through vaccination.

You don’t have to leave your home to get vaccinated. Try our at-home vaccination service for a comfortable and safe experience.

Treat Bleeds Promptly

Do not ignore even minor bleeds. It is crucial to treat injuries or wounds early and adequately.

Keep essential products for wound care and dressings at hand.