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Haemophilia Definition

Haemophilia is a rare genetic condition of spontaneous deep bleeding, where the blood doesn’t clot normally because it lacks sufficient blood-clotting proteins (clotting factors). In such a case, one will bleed longer than normal after an injury especially in the knees, ankles and elbows which can damage organs and tissues and can be life-threatening.

There are several types of haemophilia classified according to which clotting factor is deficient:

  • Haemophilia A, the most common type caused by insufficient clotting factor VIII.
  • Haemophilia B, the second most common type caused by insufficient clotting factor IX.
  • Haemophilia C, in which signs and symptoms are often mild caused by insufficient clotting factor XI.

Haemophilia Symptoms

Signs and symptoms of haemophilia change with levels of clotting factors. If clotting-factor level is mildly reduced, one may bleed only after surgery or trauma. If the deficiency is severe, one may experience spontaneous bleeding.

Signs and symptoms of spontaneous bleeding include:

  • Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
  • Many large or deep bruises
  • Unusual bleeding after vaccinations
  • Pain, swelling or tightness in the joints
  • Blood in urine or stool
  • Nosebleeds without a known cause
  • In infants, unexplained irritability

Emergency signs and symptoms of haemophilia include:

  • Sudden pain, swelling and warmth in large joints, such as knees, elbows, hips and shoulders, and in your arm and leg muscles
  • Bleeding from an injury, especially if one have a severe form of haemophilia
  • Painful, prolonged headache
  • Repeated vomiting
  • Extreme fatigue
  • Neck pain
  • Double vision

Haemophilia Risks

Haemophilia is an inherited/genetic disorder, which means the underlying genetic abnormalities are passed down from parents to their offspring. The inheritance depends on the type of haemophilia:

  • Men are prone to developing haemophilia A or B from their mothers.
  • Both males and females can develop Haemophilia C from either parent
  • About 30 percent of people suffer from a rare one called acquired haemophilia – this haemophilia is not due to inheritance but a genetic change (spontaneous mutation). Acquired haemophilia is not fully understood, but is linked to cancer, immune disease, allergies and pregnancy.

Haemophilia Diagnosis

For those with a family history of haemophilia, there is a test to determine during pregnancy if the foetus is affected by haemophilia. The doctor will guide on the benefits and risks of testing. Haemophilia can be diagnosed at an average age of 9 months and almost always by age 2 with a blood test that shows a clotting-factor deficiency. Sometimes, diagnosis is missed until a surgery or excessive bleeding happens.

Haemophilia Treatment

Since there is no cure for haemophilia, the option is treatment and therapy to manage the condition to help the patient maintain an active, productive and fairly normal lifestyle. Therapies to stop bleeding depend on the type of haemophilia include

  • Slow injection of the hormone desmopressin (DDAVP) or as a nasal medication to manage mild haemophilia.
  • Blood transfusion, at times repeated, to control moderate to severe hemophilia A or haemophilia B.

Ongoing treatment

The doctor may recommend:

  • Regular infusions of DDAVP or clotting factor
  • Clot-preserving medications (antifibrinolytics)
  • Fibrin sealants used in dental therapy to promote clotting and healing
  • Physical therapy to ease the affected bleeding joints. If the damage is severe, surgery may be required
  • First aid for minor cuts like pressure and bandage, an ice pack on the skin or ice pops in case of bleeding in the mouth.
  • Vaccinations against hepatitis A and B to prevent blood borne infections such as Hepatitis

UPDATED ON 14/05/2024

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