Haemophilia - Symptoms and Causes

By : Neha Dhyani

Updated : Apr 19, 2022, 6:25

Haemophilia is a genetic bleeding disorder that affects the blood's ability to clot. In haemophilia, the blood does not clot normally because of low amounts of a blood protein called factor VIII. Haemophilia can be acquired either in the womb or later on during childhood. The most common form of haemophilia is haemophilia A, which occurs when an individual doesn't have any proteins at all, whereas other people may have been born with milder forms and only need a little help from healthy people. Haemophiliacs must be careful around anyone who has cuts or injuries because they could bleed uncontrollably and die as a result.

What is Haemophilia?

Haemophilia (from the Greek word haima, meaning blood and the Greek phrase philia, meaning love) is a rare genetic disorder of the blood in which a person's blood does not clot properly. This can lead to uncontrolled bleeding that may be severe or even fatal. Haemophilia A is typically caused by one gene that has two variants, or alleles (AA and Aa). It can affect males and females equally. Haemophilia B is less common than Haemophilia A. Both types show similar haemophilia symptoms like bleeding joints, muscles and other soft tissue as well as organs like the liver.

Causes of Haemophilia

Haemophilia is caused by lacking or low levels of an important blood-clotting factor called factor VIII, which serves to control the process of blood clotting. Blood clotting factors are proteins that help the blood to coagulate (clot). They are necessary for normal blood clot formation in order for there to be no bleeding. Haemophilia occurs when a person has a mutation of their gene responsible for the production of a blood clotting factor. A person with haemophilia will not produce this factor (factor VIII) and will therefore have low levels of it in their blood or completely lack it leading to extremely low levels in the blood.

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Haemophilia Symptoms

  • Severe Bleeding

Not having enough of factor VIII increases the risk of bleeding. People with haemophilia often experience joint or muscle bleeds due to trauma and injuries, nosebleeds, and spontaneous bleeding sites such as the mouth and gums. In severe cases, people may have easy bruising or nosebleeds. Those with haemophilia are also at greater risk for death due to excessive blood loss while they are undergoing surgery or dental work. This is because they do not form clots very well after receiving blood transfusions or blood products.

  • Excessive Bleeding During Surgery

Surgeries can be dangerous for people with haemophilia because they are more likely to bleed excessively during and after it. This can result in additional complications and sometimes even death. People who are at risk of excessive bleeding should talk to the clinician about their treatment options. They will often receive their medication before the surgery, or they may need to take steps to reduce blood loss during surgery.

  • Increased Risk of Infection

People with haemophilia have a higher risk of developing a serious infection called sepsis (blood poisoning). This is because they can bleed easily, which allows micro-organisms into their bloodstream and haemophilia causes an infection.

Treatments of Haemophilia

There is currently no cure for haemophilia but it can be managed by treating people with the condition on an individual basis. The three main treatment options for haemophilia are:

  • Replacement therapy (also called allo-preparation)

This treatment involves infusing someone with either human or animal-derived factor VIII.

  • Factor Replacement Therapy

This treatment involves infusing people with their specific active anti-factor VIII (Factor IX or FIX) replacement therapy. Individuals are often treated with clotting factors directly from a healthy donor, or they are given a combination of clotting factors produced in vaccine form such as FIX INJECTION, a once-yearly injection of FIX.

  • Antibody Replacement Therapy

This is used in patients that do not produce enough protein to maintain normal blood clotting. This treatment replaces the missing protein that helps to form a clot and has been proven effective in trials.

Haemophilia is a serious medical condition that has been managed by using replacement therapy either by receiving the protein in a form of a replacement transfusion or injecting small doses of it to boost the body's natural factor VIII levels. Haemophilia groups are currently lobbying for the right to use gene therapy and a cure for people with haemophilia.

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FAQs on Haemophilia

Q1: What is Haemophilia A?

Haemophilia A is a form of haemophilia in which haemophilia causes severe internal bleeding (bleeding into joints and muscles) due to low levels of Factor VIII. People with this type of haemophilia are typically only treated when there are haemophilia symptoms such as excessive bleeding after surgical procedures or broken bones. Haemophilia B is typically less severe.

Q2: What is Haemophilia B?

Haemophilia B is a form of haemophilia that haemophilia causes joint and muscle bleeding due to low levels of Factor IX. The haemophilia symptoms are more common in males than females and typically appear within the first few years of life. Haemophilia symptoms also occur more frequently with milder forms of this condition. Men can pass on the disorder to their children with about a 10% chance for each pregnancy and a 50% for each pregnancy if both parents are carriers. This disorder can be diagnosed at birth or through physical exams and blood tests in older children or adults.

Q3: How Is Haemophilia Treated?

Haemophilia is usually treated with replacement therapy, which replaces the clotting factor that is missing or inadequate in someone with haemophilia. Replacement therapy can be done by infusing factor VIII or IX. Factor XIIIa can also be used to form a clot in patients with haemophilia whose blood does not clot properly.

Q4: Who Do I Speak to About My Current Haemophilia Treatment?

The best person to speak to about your current treatment and how you experience it is your haematologist or clinician in charge of prescribing the treatment for you.