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Andal, Katrina Joie R.
Fernandez, Mikee B.
DMD2D
 Hemophilia is a coagulation
Definition     disorder arising from a genetic defect of
               the X chromosome.
              Depending on the degree of the disorder in
               the affected individual, uncontrolled
               bleeding may occur spontaneously with no
               known initiating event, or occur after
               specific events such as surgery, dental
               procedures, immunizations, or injury.
              Any of several hereditary blood-
               coagulation disorders in which the blood
               fails to clot normally because of a
               deficiency or abnormality of one of the
               clotting factors.
              Hemophilia, a recessive trait associated
               with the X-chromosome, is manifested
Signs and Symptoms
External bleeding may include:
 Bleeding in the mouth from a cut or bite or from cutting or
  losing a tooth.
 Nosebleeds for no obvious reason.
 Heavy bleeding from a minor cut.
 Bleeding from a cut that resumes after stopping for a short time.


Internal bleeding may include:
 Blood in the urine (from bleeding in the kidneys or bladder).
 Blood in the stool (from bleeding in the intestines or stomach).
 Large bruises (from bleeding into the large muscles of the body).
Signs and Symptoms
Bleeding in the Joints
 Bleeding in the knees, elbows, or other joints is another common
  form of internal bleeding in people who have hemophilia.
 The bleeding causes tightness in the joint with no real pain or any
  visible signs of bleeding. The joint then becomes swollen, hot to
  touch, and painful to bend.
Bleeding in the Brain
 Long-lasting, painful headaches or neck pain or stiffness
 Repeated vomiting
 Sleepiness or changes in behavior
 Sudden weakness or clumsiness of the arms or legs or problems
  walking
 Double vision
 Convulsions or seizures
Types of Hemophilia
          A                  B                  C
  It is the most    It is the second   It is a mild form
common type of       most common       of hemophilia.
   hemophilia.            type of
                      hemophilia.
      (Severe)         (Moderate)          (Mild)
 It is also known It was originally     Deficiency of
      as factor           named          factor XI.
VIII deficiency or     “Christmas
       classic     disease”. Caused
    hemophilia.        by factor IX
                        deficiency
Diagnosis
Prenatal testing
 If a pregnant woman has a history of
  hemophilia, a hemophilia gene test can be
  done during pregnancy. A sample of
  placenta is removed from the uterus and
  tested. This test is known as a CVS
  (chorionic villus sampling) test.
 Blood test
Treatment
Clotting factor concentrates
 Plasma-derived clotting factors - prepared from the plasma of
  donated human blood.
 Recombinant clotting factors -the first generation of
  recombinant products use animal products in the culture
  medium and had human albumin (a human blood product)
  added as a stabilizer.
Desmopressin (DDAVP)(for mild hemophilia A)
 This medication is a synthetic hormone which encourages the
  body to produce more of its own Factor VIII.
RICE (Rest, Ice, Compression, Elevation)
 RICE is a treatment many health care professionals recommend
  for joint bleeds. It also reduces swelling and tissue damage
  when used together with clotting factor concentrates.
Treatment
Administering clotting factor concentrates
 The medication is injected into a vein -
  generally in the back of the hand or at the
  crook of the elbow.
Storing treatment
 Factor concentrates should usually be stored in
  a refrigerator but are stable at room
  temperature for quite long periods. They
  should not be frozen as this may damage the
  vials or syringes.
Royal disease

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Royal disease

  • 1. Andal, Katrina Joie R. Fernandez, Mikee B. DMD2D
  • 2.  Hemophilia is a coagulation Definition disorder arising from a genetic defect of the X chromosome.  Depending on the degree of the disorder in the affected individual, uncontrolled bleeding may occur spontaneously with no known initiating event, or occur after specific events such as surgery, dental procedures, immunizations, or injury.  Any of several hereditary blood- coagulation disorders in which the blood fails to clot normally because of a deficiency or abnormality of one of the clotting factors.  Hemophilia, a recessive trait associated with the X-chromosome, is manifested
  • 3. Signs and Symptoms External bleeding may include:  Bleeding in the mouth from a cut or bite or from cutting or losing a tooth.  Nosebleeds for no obvious reason.  Heavy bleeding from a minor cut.  Bleeding from a cut that resumes after stopping for a short time. Internal bleeding may include:  Blood in the urine (from bleeding in the kidneys or bladder).  Blood in the stool (from bleeding in the intestines or stomach).  Large bruises (from bleeding into the large muscles of the body).
  • 4. Signs and Symptoms Bleeding in the Joints  Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia.  The bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend. Bleeding in the Brain  Long-lasting, painful headaches or neck pain or stiffness  Repeated vomiting  Sleepiness or changes in behavior  Sudden weakness or clumsiness of the arms or legs or problems walking  Double vision  Convulsions or seizures
  • 5. Types of Hemophilia A B C It is the most It is the second It is a mild form common type of most common of hemophilia. hemophilia. type of hemophilia. (Severe) (Moderate) (Mild) It is also known It was originally Deficiency of as factor named factor XI. VIII deficiency or “Christmas classic disease”. Caused hemophilia. by factor IX deficiency
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  • 8. Diagnosis Prenatal testing  If a pregnant woman has a history of hemophilia, a hemophilia gene test can be done during pregnancy. A sample of placenta is removed from the uterus and tested. This test is known as a CVS (chorionic villus sampling) test.  Blood test
  • 9. Treatment Clotting factor concentrates  Plasma-derived clotting factors - prepared from the plasma of donated human blood.  Recombinant clotting factors -the first generation of recombinant products use animal products in the culture medium and had human albumin (a human blood product) added as a stabilizer. Desmopressin (DDAVP)(for mild hemophilia A)  This medication is a synthetic hormone which encourages the body to produce more of its own Factor VIII. RICE (Rest, Ice, Compression, Elevation)  RICE is a treatment many health care professionals recommend for joint bleeds. It also reduces swelling and tissue damage when used together with clotting factor concentrates.
  • 10. Treatment Administering clotting factor concentrates  The medication is injected into a vein - generally in the back of the hand or at the crook of the elbow. Storing treatment  Factor concentrates should usually be stored in a refrigerator but are stable at room temperature for quite long periods. They should not be frozen as this may damage the vials or syringes.