Hemophilia

Types Of Hemophilia

Hemophilia can be classified into the following types:

Based On Cause

1. Hemophilia A (classical hemophilia): It is caused due to the deficiency or a complete absence of Factor VIII. It is more common than hemophilia B. 

2. Hemophilia B (Christmas disease): Deficiency or lack of factor IX causes hemophilia B. 

Note: HA and HB are indistinguishable as both have the same clinical symptoms. 

Based On Severity

HA and HB can also be classified according to the plasma level of FVIII or FIX activity. It can be classified as:

1. Mild: Hemophilia is considered mild if the level of clotting factor VIII or IX is between 5 to 40%. Individuals with mild deficiency generally experience bleeding after serious injury and trauma. 

Note: Women with mild hemophilia can experience heavy menstrual bleeding. These women can suffer from extensive vaginal bleeding after childbirth.

Here are some other abnormal causes of vaginal bleeding. 
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3. Moderate: The moderate form has a factor level of 1-5% in the blood. These people tend to have episodes of bleeding after injuries.

4. Severe: The activity level of less than 1% is considered severe hemophilia. The occurrence of frequent spontaneous bleeding into the joints, muscles, and soft tissues without the cause is the classical sign of severe injury. 

Have you heard about hemophilia C?

Hemophilia C is a rare type, affecting 1 in 100,000 men and women equally. Caused by a deficiency in factor XI, it typically has milder symptoms without spontaneous internal bleeding, often going unnoticed throughout life.

Symptoms Of Hemophilia

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

• Spontaneous bleeding to 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

Causes Of Hemophilia

Hemophilia is a genetic disease that is characterized by the absence or deficiency of certain clotting factors from birth. The possible reason 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. 

Risk Factors For Hemophilia

The following factors increase the risk of hemophilia:

Family history 

• Hemophilia runs in families. It 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 who have had family members with hemophilia are recommended to be tested soon after the birth. 

Race

• People in regions where consanguineous marriages, like 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.

Diagnosis Of Hemophilia

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: It 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 case of hemophilia.

• Activated partial thromboplastin time (APTT): It 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 done by two methods:

• CVS (chorionic villous sampling): In this, a sample of tissue is taken from the placenta to test for genetic abnormalities. 

• Amniocentesis: It 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 

• Has another child who has hemophilia

• Has symptoms of hemophilia

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These tests should be done between weeks 8 to10. 

Here are some medical tests that are a must during pregnancy. 
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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 bleed

• 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

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Prevention Of Hemophilia

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.

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Specialist To Visit

The speciality of doctors that might help include:

• General Physician

• Hematologist

• Chronic pain specialist 

• Geneticist

• Pediatrician

A general physician helps diagnose hemophilia and initiate treatment. 

A hematologist diagnoses and treats hemophilia, manages factor replacement therapies, and monitors for complications.

A  chronic pain specialist helps manage the severe unbearable pain associated with hemophilia. 

A geneticist can identify genetic mutations causing hemophilia and guide inheritance patterns and family planning.

A pediatrician can manage the overall care of

When to see a doctor?

Children with a family history of hemophilia should be tested for hemophilia. Individuals with the following symptoms even without a family history should also consult the doctor:

• Prolonged bleeding after circumcision 

• Prolonged bleeding after drawing blood 

• Heavy menstrual bleeding

• Hard delivery

• Unusual raised bruises 

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Treatment Of Hemophilia

Hemophilia can not 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 the suspected or confirmed cases.

• It includes an infusion of factor concentrates and entire blood as per the need and availability. Bleeding should be ceased within two hours of the onset of symptoms to avoid complications.

Here are some tips to stop bleeding.
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Prophylactic management (regular treatment regimen)

• It involves treatment options that are aimed at preventing episodes of bleeding. 

• It is typically prescribed to individuals with severe hemophilia. 

• The regular intravenous (IV) infusion of the missing clotting factors is given to increase their level.

Factor concentrates

• Plasma-derived: They are prepared from the 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). To overcome this recombinant clotting factors are used which serve the same purpose.

Blood transfusion

• The whole blood is also used to control bleeding as it contains all the clotting factors.

Adjuvant therapies

• Tranexamic acid: It works by blocking the breakdown of blood clots, which prevents bleeding. It is mainly used to control mucosal bleeding. 

• Desmopressin (DDAVP): It works by releasing stored Factor VIII from blood vessels. It is used mainly in mild hemophilia.

• Fibrin sealant: It is available as sprays that are meant to be applied on open wounds to control bleeding.

• Factor eight inhibitor bypassing activity (FEIBA): It is composed of the clotting factors  II, VII, IX, and X. 

• Antispasmodic analgesics: These are used to control pain during the bleeding episode. The common examples are 

  • Paracetamol

  • Dextropropoxyphene

  • Codeine

  • Buprenorphine

  • Tramadol

• Aminocaproic acid: It prevents blood clots and is mainly prescribed before dental surgery. It is also given to manage nose and mouth bleeds.

• Calcium alginate: It is derived from seaweed and is used in dressings of wound repair. 

Novel therapies

• Gene therapy: A gene is a basic unit of information that directs cells to produce proteins; gene therapy aims to correct diseases by introducing functional genes, though it's costly and has limited application.

• Monoclonal antibodies (non-factor replacement therapies): They are proteins made in labs that work in the same manner as that of the body's protein. One available therapy is emicizumab.

• Hemostatic rebalancing therapies: These aim to restore the natural balance in blood clotting by correcting deficiencies or imbalances. Some examples include:

  • Fitusiran

  • Concizumab

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Home-care For Hemophilia

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
  
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• 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.
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• 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.Read This
  
  

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. 

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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.

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Switch to low-fat 

• 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.

Here are the healthy carbohydrates and fats that you should include in your diet. 
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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. 

Complications Of Hemophilia

• The major complication with hemophilia is developing antibodies against the factors given externally. 

• It is estimated that around 15 to 20% of people develop the inhibitors. It makes the treatment extremely difficult. 

The other complications include:

• Musculoskeletal deformities:  Affecting joints, ankles, knees, and elbows. 

• Pseudotumors: these are tumor-like structures that contain coagulated blood and are surrounded by a thick wall. They mostly develop in long bones and the pelvis. 

• Fractures: Chronic and severe joint impairment as a result of bleeding can also lead to fractures. 

• Bloodborne infection: Individuals can also develop blood borne infections such as HIV infection and hepatitis C due to the infusion of contaminated blood and factor concentrates.

Here are 8 types of hepatitis screening you must know.
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Living With Hemophilia

Hemophilia is a lifelong disorder with life-threatening complications. Individuals have a poor quality of life due to the severity of symptoms. The following measures help in faster recovery and also help in reducing complications:

Assess the condition of joints

Joints are the major affected organ in hemophilia. Caregivers should notice:

• Movement of joints

• Pain or stiffness in a joint, with or without bruising present

• Swelling and warmth in a joint, with or without bruising to the area

• 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 the blood supply

• Keep the limbs compressed using stockings or wraps

• Apply ice

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Go for prenatal testing

• Pregnant women need to go for the testing of hemophilia in the developing fetus if they have a family history of hemophilia. 

Look for hemophilia treatment centers (HTCs)

• Hemophilia treatment centers offer comprehensive care, focusing on preventive services to minimize complications. 

• They are staffed with skilled hematologists, nurses, physical therapists, social workers, and sometimes other specialists like dentists and dieticians. 

• Find a nearby center for expert care.

Get an annual comprehensive health checkup

• People with severe hemophilia are at high risk for internal bleeding without visible symptoms, making annual comprehensive check-ups essential to prevent life-threatening incidents like brain or abdominal bleeds. 

• Regular evaluations for bloodborne infections are also vital due to the increased risk from frequent transfusions.

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Get yourself vaccinated

• Blood transfusions increase the chances of developing infectious diseases such as Hepatitis A and B. 

• These diseases can be prevented through vaccination. 

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Treat bleeds promptly

• Do not ignore even minor bleeds. 

• It is very important to treat the injury or any wound early and adequately. 

Keep the essential products needed for wound care and dressings.
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