Short

Haemophilia

Haemophilia

Hemophilia is a genetic disease and a blood clotting disorder. It is a permanent disease that cannot be completely cured. But with proper treatment and proper care, most of those who suffer from haemophilia can lead a normal, active and productive life.

What are the causes of hemophilia?

Coagulation is the process by which the blood is transformed from the liquid state into the solid. It involves blood particles called platelets and procoagulant plasma proteins called coagulation factors. Hemophilia occurs when there is a deficiency of one of these coagulation factors. There are several types of hemophilia. The exact causes of haemophilia depend on each type as follows:

  • Hemophilia A - is the most common type and is caused by insufficient coagulation factor VIII;
  • Hemophilia B - is the second most common disease and is caused by insufficient coagulation factor IX;
  • Hemophilia C - is a very rare type and is inherited or genetic;

The cause is the absence of a coagulation factor XI, and the symptoms are almost unnoticeable.

What are the symptoms?

The signs and symptoms of haemophilia depend on how severe the deficiency is. If this is small then you may experience spontaneous bleeding, and if it is slightly increased or moderate, then you may suffer bleeding only after a trauma or surgery.

Symptoms of spontaneous bleeding in the body include:

  • many large and deep bruises;
  • joint pain and swelling caused by internal bleeding;
  • unexplained bleeding or bruising (without a particular cause);
  • blood in the urine or stool;
  • abundant bleeding from cuts, injuries or after surgery or dental extraction;
  • nasal bleeding without an obvious cause;
  • tension or tension in the joints etc.

There are a number of symptoms that appear suddenly and suggest an evolution of the disease:

  • sudden pain, swelling, and heat sensation in the large joints (knees, elbows, hips, shoulders, muscles of the arms and legs);
  • bleeding after injury (in severe form of hemophilia);
  • repeated vomiting;
  • extreme fatigue;
  • cervical pain;
  • double view.

What are the complications that may occur?

If haemophilia is neglected or left untreated it can progress and develop giving rise to complications:

  • deep internal bleeding (severe bleeding that can cause swelling of a limb;
  • edema can depress the nerves and even lead to the loss of the respective limb);
  • joint damage (you may develop arthritis);
  • infections.

How is hemophilia treated?

While there is no cure for hemophilia, most people can lead a normal life with proper treatment. Treatments to keep this condition in check depend on how severe the disease is:

  • Moderate haemophilia A - slow injection of desmopressin hormone into veins to stimulate clotting factor release and to stop bleeding - sometimes it is also given nasally;
  • Moderate to severe hemophilia A and B - bleeding can stop only after an infusion of missing coagulation factor that is donated by someone by blood donation or genetically engineered in the laboratory by genetic engineering (called recombinant coagulation factors) Hemophilia C - requires infusion plasma to stop hemorrhagic episodes.

If coagulation factor is administered by infusion consistently, 2-3 times a week then subsequent bleeding can be prevented. These can be done in the hospital or at home. The doctor can teach the patient to administer the required dose alone.

Tags Inherited diseases Infections Problems of vision