What is Haemophilia?

    Haemophilia is a hereditary bleeding disorder marked by insufficient or diminished levels of specific proteins known as "clotting factors."

    Various types of haemophilia exist, all characterized by reduced clotting factor VIII or factor IX levels. The quantity of factors in the bloodstream determines the severity of the disorder.

    Individuals with haemophilia experience impaired blood clotting, resulting in prolonged bleeding, even from minor wounds or trauma. Additionally, it can lead to:

  • Spontaneous bleeding episodes
  • Internal bleeding
  • Painful, swollen joints caused by internal bleeding within the joint spaces

What are the types of Haemophilia?

    Hemophilia manifests in three primary forms: hemophilia A, B, and C.

    1. Hemophilia A: This variant, also termed "classic hemophilia," arises from a deficiency in factor VIII, making it the most prevalent type of hemophilia.

    2. Hemophilia B: Commonly known as "Christmas disease," this type results from the absence or severe deficiency of clotting factor IX.

    3. Hemophilia C: Also referred to as "factor XI deficiency," is a less common form of hemophilia discovered in individuals experiencing significant bleeding following dental procedures in 1953.

    Hemophilia is an inherited genetic disorder that, while not curable, can be managed to alleviate symptoms and prevent complications.

  • Congenital Hemophilia: Most hemophilia cases are congenital, meaning they are present at birth due to inheriting the condition from one or both parents. Approximately two-thirds of hemophilia A and B cases occur in individuals with a familial history of the disorder.
  • Acquired Hemophilia: Unlike congenital hemophilia, acquired hemophilia can develop without any familial or personal history of the disorder. This rare autoimmune condition arises when the immune system produces antibodies that attack clotting factors, typically targeting factor VIII (acquired hemophilia A).

What are the causes of hemophilia?

    When bleeding occurs, the body typically initiates a process to form a clot, involving the pooling of blood cells together. Clotting factors and blood proteins collaborate with platelets to facilitate clot formation. Hemophilia arises when a specific clotting factor is deficient or absent.

  • Congenital Hemophilia:

    Hemophilia is primarily inherited, meaning individuals are born with it (congenital). Congenital hemophilia is categorized based on the type of deficient clotting factor.

    The most prevalent form is hemophilia A, characterized by low levels of factor 8, followed by hemophilia B, linked to reduced levels of factor 9.

  • Acquired Hemophilia:

    Individuals sometimes develop hemophilia without any familial history of the disorder, known as acquired hemophilia.

    This variant occurs when the immune system targets clotting factor 8 or 9 in the blood, a condition associated with factors such as pregnancy, autoimmune diseases, cancer, multiple sclerosis, or drug reactions.

    Inheritance of Hemophilia:

    For the most common types of hemophilia, the defective gene is typically situated on the X chromosome. Each individual inherits two sex chromosomes, one from each parent. Females inherit an X chromosome from both parents, while males inherit an X chromosome from the mother and a Y chromosome from the father.

    As a result, hemophilia predominantly affects males and is inherited from carrier mothers who pass on the defective gene to their sons. While most carrier women do not exhibit hemophilia symptoms, some may experience bleeding issues if their clotting factors are moderately diminished.

    ### What are the risk factors of Hemophilia?

    The primary risk factor for hemophilia is family members with the disorder. Hemophilia is significantly more common in males than in females.

What are the symptoms of Hemophilia?

    The signs and symptoms of hemophilia can vary based on the level of clotting factors in the body. Mild reductions in clotting factor levels may result in bleeding only after surgery or injury, while severe deficiencies can lead to spontaneous bleeding.

    Symptoms of spontaneous bleeding may include:

  • Excessive and unexplained bleeding from cuts, injuries, or after surgery or dental procedures
  • Large or deep bruises occurring frequently
  • Unusual bleeding following vaccinations
  • Pain, swelling, or stiffness in the joints
  • Presence of blood in urine or stool
  • Nosebleeds without an apparent cause
  • Irritability in infants without explanation

    Bleeding into the brain, although rare, can occur with severe hemophilia and is a critical complication. Symptoms of bleeding into the brain include:

  • Persistent and severe headache
  • Repeated vomiting
  • Sleepiness or lethargy
  • Double vision
  • Sudden weakness or clumsiness
  • Convulsions or seizures

    How is hemophilia diagnosed?

    Severe cases of hemophilia are typically diagnosed within the first year of life, while milder forms may not become apparent until adulthood. Some individuals discover they have hemophilia after experiencing excessive bleeding during surgical procedures.

    Clotting-factor tests can identify deficiencies and assess the severity of hemophilia. Genetic testing may be utilized in families with a history of hemophilia to identify carriers and inform decisions regarding pregnancy.

    Prenatal testing can determine if a foetus is affected by hemophilia, but it carries some risks. Discussing the potential benefits and risks of testing with your healthcare provider is essential.

What is the treatment for hemophilia?

    Hemophilia is typically managed through treatments aimed at increasing clotting factor levels or replacing deficient clotting factors, known as replacement therapy.

    Replacement therapy involves administering human plasma concentrates or synthetic (recombinant) clotting factors. Regular replacement therapy is often necessary for individuals with severe hemophilia. Those with mild or moderate hemophilia requiring surgery may also receive replacement therapy, sometimes supplemented with antifibrinolytics to stabilize blood clots.

    Blood factor concentrates, derived from donated human blood that undergoes rigorous screening and treatment are administered intravenously (IV) to provide the necessary clotting factors.

    For individuals with severe hemophilia experiencing frequent bleeding episodes, prophylactic factor infusions may be prescribed to prevent bleeding occurrences.

When to see a doctor?

    It is crucial to seek immediate medical attention if experiencing:

  • Signs or symptoms indicative of bleeding into the brain
  • Injuries with uncontrollable bleeding
  • Swollen joints that are warm to touch and painful to move

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