Haemophilia

Haemophilia is a genetic (inherited) condition that affects the blood’s ability to clot. That is a person with this condition bleed for a longer time than usual.

Classification-

  1. Haemophilia A
  2. Haemophilia B
  3. Haemophilia C
  4. Acquired haemophilia
    (immune system attack the clotting factors in the blood)

Causes—

  1. Genetic defect present on the X chromosome.
  2. Male are more prone to the disease;female being carrier
  3. Spontaneous genetic mutation

Symptoms And Signs—

A. Specific–

  1. Mild hemophilia
  • Person has 6 percent to 49 percent of the normal factor level
  • Bleeds only after serious injury, trauma or surgery
  • First episode of bleeding may not occur until adulthood.

2. Moderate hemophilia-

  • Person has 1 percent to 5 percent of the normal factor level
  • Bleeding episodes after injuries, major trauma or surgery
  • Occasional bleeding without obvious cause ( spontaneous bleeding episodes)

3. Severe hemophilia-

  •  Person has less than 1 percent factor level
  • Bleeding following an injury or surgery
  • Frequent spontaneous bleeding episodes into the joints and muscles.

B. General—

  1. Ache, tingling or irritation in joints (usually in knees, elbows or ankles)
  2. Pain and swelling in joints
  3. Large and deep bruises
  4. Nosebleeds
  5. Prolonged bleeding after a cut, tooth extraction or surgery
  6. Blood in urine or faeces
  7. Bruises on picking(infants)

Investigations-

  1. Prenatal testing

 Chorionic villus sampling (CVS). During CVS, a small sample of placenta (after-birth) is removed from the uterus and tested for the hemophilia gene.

2. Blood tests ( to determine if clotting factors are missing or at low levels)                     

Treatment —

  1. Replacement therapy

     The replacement clotting factor may come from human blood or genetically engineered to prevent and treat prolonged bleeding. The clotting factors can be given by injection on a regular basis.

  1. Medications

Complications—

  1. Deep internal bleeding
  2. Continous bleeding (Development of an antibody to the clotting factor concentrate used to treat or prevent bleeding. This antibody keeps the clotting factor concentrate from working effectively to stop bleeding)
  3. Infections
  4. Joint deformity and destruction

Prevention-

  1. Regular testing for blood-borne diseases.
  2. Get Immunized for Hepatitis A and B
  3. Regular exercise and maintain a healthy weight
  4. Seeking prompt treatment when bleeding occurs
  5. Family members should learn to recognize signs of bleeding in children

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