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Hemophilia : Definition, Causes, Symptoms, Diagnosis, Treatment and Prevent

Sunday, July 15th 2012. | Blood System

Hemophilia Definition

Hemophilia is an inherited disease that results in an inability of blood to clot in people. Transmission of the disease is recessive and X-linked, the defective gene is located on this chromosome. There are two main forms: hemophilia A and hemophilia B as a function of coagulation factor deficiency.

As the transmission of the disease is recessive and X-linked, only boys are affected by the disease, while girls only transmit the disease. The incidence of hemophilia is approximately 15-20 per 10,000 newborn males. It is not a contagious disease.

Hemophilia Causes

When someone is injured, clotting factors are normally activated in cascade. This results in the formation of a thrombus for closing the lesions of the vessel wall.

Hemophiliacs, the function of a clotting factor is disrupted – usually, this is the factor VIII or factor IX (hemophilia A or B). Depending on the severity of the deficit, it is called mild hemophilia or severe hemophilia.

Hemophilia is reflected clinically by the appearance of severe bleeding due to the malfunction of clotting, which can not quickly clog the breaches occurred in the vessels. Without proper treatment of minor injuries and can result in significant losses of blood.

hemophiliaa Patient

Hemophilia Disorders (Symptoms)

The severity of the disease varies with the severity of the deficiency of coagulation factor. The following symptoms may be observed:

  • Severe and persistent bleeding after minor injuries
  • Eventually, spontaneous bleeding without apparent cause
  • Bleeding into joints (eg knee swollen), muscles, urinary tract (bloody urine), the gastrointestinal system (blood in stool, tar-colored stools), mucous membranes.
  • In cases of serious bleeding, occurrence of anemia
  • In case of repeated bleeding, development of iron deficiency anemia by iron deficiency
  • The appartion of chest or abdominal pain of unknown origin requires an immediate diagnostic management because of the risk of internal bleeding.

Hemophilia Examinations (Diagnosis)

  • History taking into account the patient’s symptoms and questions about other cases of hemophilia in the family
  • Thorough inspection of the skin, mucous membranes and joints to identify signs of bleeding
  • Blood with functional tests and assay of coagulation factors (platelet function is normal but the clotting time is significantly extended)
  • Genetic analyzes
  • When suspicious lesions of organs, medical imaging (ultrasound, CT) should be initiated quickly for optimal therapeutic management.

hemophilia diagram (img : cdc.gov)

Hemophilia Treatment Options

Medical Drugs

Clotting factor :

  • The treatment of hemophilia consists of repeated administration (often several times a week) of coagulation factor deficiency to ensure proper functioning of coagulation.
  • Lyophilized concentrates from blood donors and factor concentrates produced by genetic engineering are the basis for treatment. The advantage of the factors produced by genetic engineering is no risk of transmission of infectious diseases. However, it should be noted that through the manufacturing processes used today, this infectious risk is very low for concentrates from blood transfusions. Patients with hemophilia can learn to self-administer coagulation factors and thus make the injections at home.

Treatment of large and small wounds

  • Minor wounds (cuts at the finger, abrasions, nosebleeds) are treated as in healthy subjects. Often, applying a pressure bandage over an extended period is necessary.
  • Contusions require treatment if symptoms worsen over time.
  • Muscle or joint bleeding require immediate care to avoid loss of function.
  • In the presence of blood in urine or stool, you should consult a doctor immediately.
  • If dropped on the head, the possibility of a brain hemorrhage should be considered. This sometimes occurs spontaneously. The cerebral hemorrhage is an absolute medical emergency, requiring immediate administration of clotting factor at high doses.
  • Trauma in the neck, tongue and face also require emergency treatment because of the risk of airway obstruction.
  • If in doubt, it is better to proceed with the immediate administration of coagulation factor!

What can I do myself to avoid bleeding?

  • The use of physiotherapy exercises to develop muscles and improve coordination of movement reduces the risk of bleeding.
  • Avoid risky sports.
  • No injection of product into the muscle!
  • Drugs that interfere with blood clotting are cons-indicated in cases of hemophilia (eg Aspirin ® and most antipyretics and analgesics).
  • According to the Swiss Society of Hemophilia products containing paracetamol (Panadol ®, Tylenol @) can be used without restriction to relieve pain or reduce fever.

Important Note!

All hemophilia shall be provided with a map showing how to behave in an accident!

Hemophilia Possible Complications

Bleeding repeated at the joints are accompanied by inflammatory processes, which contribute to the gradually joint destruction.

Hemophilia Preventive Measures

What can I do myself to avoid bleeding?

  • The use of physiotherapy exercises to develop muscles and improve coordination of movement reduces the risk of hemorrhage.
  • Avoid risky sports.
  • Not dinjection product in the muscle!
  • Drugs that interfere with blood clotting are cons-indicated in case of hemorrhage (eg Aspirin ® and most antipyretics and analgesics).
  • According to the Swiss of hemorrhage, products containing paracetamol (Panadol ®, Tylenol @) can be used without restriction to relieve pain or reduce fever.

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