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Haemophilia A

Hemofilia A - Vall d'Hebron

 

A congenital deficiency in Factor VIII activity (deficiency in clotting factor) and as such is transmitted genetically. The altered gene is found on the X chromosome and often affects mainly men (sufferers), whilst women are carriers and do not suffer from the disease.

Although they may have one X chromosome affected, females are able to compensate for symptoms using their second X chromosome.

 

 

 

Description

Blood clotting depends on the interaction of different proteins circulating in the plasma, which are called clotting factors. These proteins interact with platelets to form a blood clot. There are different diseases due to a lack of clotting factors or a lack of platelet function. The most important of this group is haemophilia due to a deficiency of clotting Factor VIII.

 

 

Els symptoms

 

The symptoms will depend on the levels of Factor VIII in the blood plasma, although the following are common:

-Haemarthrosis (bleeding in the joints, especially in the knees)

-Severe muscle haematoma (may affect the muscles in the back)

-Connective tissue haematoma (bleeding from the abdomen or floor of the mouth)

-Mucosal bleeding (especially in the gums)

-Occasionally intracranial bleeding: not typical, but very serious

 

 

How is affectted by the condition?

 

As it is a genetic disorder, it can affect people of all ages, from the moment a child is born if there is a trauma during the birth, or when they start to crawl or walk. Spontaneous bleeding may occur or bleeding after minor trauma. 

 

 

Diagnosis

 

Diagnosis is made in the haemostasis laboratory:

-Activated partial thromboplastin time or prolonged APTT.

-Kasper test: the patient’s plasma is mixed with a control plasma, and if it normalises, it means that the control Factor VIII has balanced out the patient's loss.

-Genetic diagnosis: look for a mutation in the Factor VIII gene.

 

 

 

Typical treatment

  

Currently the treatment consists mainly of the administration of recombinant Factor VIII, obtained through biotechnological procedures. The problem is that antibodies are produced that neutralise this recombinant factor within one or two days, so the patient must be prophylactically injected. There are new long-term treatments with fewer infusions per week and another subcutaneous infusion.

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