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Introduction
 It is the most common of the hereditary
bleeding disorders, constituting nearly 90-95%
of such cases.
 Hemophilia are the most common hereditary
clotting defects, occurring as X-linked
recessive disorders.
 Hemophilia is an inherited bleeding disorder in
which a person lacks or has low levels of
certain proteins called “clotting factors” and the
blood doesn’t clot properly as a result.
 This leads to excessive bleeding.
 There are 13 types of clotting factors, and
these work with platelets to help the blood clot.
 Platelets are small blood cells that form in
your bone marrow.
Mode of Inheritance
 Hemophilia A is an X-linked recessive
disorder.
 Usually males are the sufferers and
females are carriers.
 Females can be hemophilic if:
 She is born to affected father and carrier
mother.
 Females with inactivation of the X-
chromosome such as turner syndrome
Classification
 Hemophilia A ( classical hemophilia)
 Hemophilia B ( christmas disease)
 Hemophilia C
Hemophilia A ( classical
hemophilia)
 Caused by factor VIII deficiency
 It is X linked recessive, occurring almost
exclusively in the males.
 The females act as the carriers without
manifesting the disease.
 Hemophilia A accounts for 98% of all the
hemophilic.
Hemophilia B ( christmas
disease)
 It results from deficiency of factor IX.
 Factor IX, the plasma thromboplastin
components.
Hemophilia C
 It results from deficiency of factor XI.
 Factor XI, the plasma thromboplastin
antecedent
Clinical Features
 The extent of your symptoms depends on the
severity of your factor deficiency. People with a mild
deficiency may bleed in the case of trauma.
 Earliest manifestation may be in the form of
bleeding from umbilical cord within few days after
birth.
 People with a severe deficiency may bleed for no
reason. This is called “spontaneous bleeding.” In
children with hemophilia, these symptoms may
occur around age 2.
Spontaneous bleeding can
cause the following
 blood in the urine
 blood in the stool
 deep bruises
 large, unexplained bruises
 excessive bleeding
 bleeding gums
 frequent nosebleeds
 pain in the joints
 tight joints
 irritability (in children)
Clinical Evaluation
 Clinical picture and family history of the
disease on maternal side.
 Hemophilia A and B are more common
in males than females because of
genetic transmission.
Investigation
 Blood test –
 clotting time is prolonged.
 Bleeding and prothrombin times are normal
 Clot retraction is also normal.
 Prothrombin consumption is low
 Thromboplastin generation is high
 Platelet count is normal.
 Radiology –
 It should be done in case of hemarthrosis.
 Initially, there is distention of the joint cavity and
synovitis.
 later, the changes include areas of synovial
thickening, demineralization, erosion and
contracture.
Antenatal Diagnosis
 It is possible at 18-20 weeks of
gestation.
Local treatment
 Cleansing the open injury
 Apply local pressure
 Immobilize wounds by bandages,
splinting.
 Elevate the affected part
 Pain is relieved by analgesics
 During recovery phase physiotherapy
Replacement therapy
 Factor VIII concentration is available as
plasma derived and recombined.
 Intravenous infusion to correction of
deficiency of factor VIII.
 Indications of replacement therapy –
 Early treatment of spontaneous bleeding
 Severe or prolonged wound and tissue
bleeding
 Control of bleeding during and after surgery
and trauma.
Nontransfusion therapy in
Hemophilia
 DDAVP (1-amino – 8-D- arginine
vasopression)
 Indication – minor bleeding and minor surgery
 Antifibrinolytic drugs
 Indications – to control bleeding in the gums,
nasal bleeding, gastrointestinal tract, during
oral surgery and menstruation
 Drug used – epsilon aminocaproic and
tranexamic acid

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Hemophilia

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  • 4. Introduction  It is the most common of the hereditary bleeding disorders, constituting nearly 90-95% of such cases.  Hemophilia are the most common hereditary clotting defects, occurring as X-linked recessive disorders.  Hemophilia is an inherited bleeding disorder in which a person lacks or has low levels of certain proteins called “clotting factors” and the blood doesn’t clot properly as a result.  This leads to excessive bleeding.  There are 13 types of clotting factors, and these work with platelets to help the blood clot.  Platelets are small blood cells that form in your bone marrow.
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  • 6. Mode of Inheritance  Hemophilia A is an X-linked recessive disorder.  Usually males are the sufferers and females are carriers.  Females can be hemophilic if:  She is born to affected father and carrier mother.  Females with inactivation of the X- chromosome such as turner syndrome
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  • 8. Classification  Hemophilia A ( classical hemophilia)  Hemophilia B ( christmas disease)  Hemophilia C
  • 9. Hemophilia A ( classical hemophilia)  Caused by factor VIII deficiency  It is X linked recessive, occurring almost exclusively in the males.  The females act as the carriers without manifesting the disease.  Hemophilia A accounts for 98% of all the hemophilic.
  • 10. Hemophilia B ( christmas disease)  It results from deficiency of factor IX.  Factor IX, the plasma thromboplastin components.
  • 11. Hemophilia C  It results from deficiency of factor XI.  Factor XI, the plasma thromboplastin antecedent
  • 12. Clinical Features  The extent of your symptoms depends on the severity of your factor deficiency. People with a mild deficiency may bleed in the case of trauma.  Earliest manifestation may be in the form of bleeding from umbilical cord within few days after birth.  People with a severe deficiency may bleed for no reason. This is called “spontaneous bleeding.” In children with hemophilia, these symptoms may occur around age 2.
  • 13. Spontaneous bleeding can cause the following  blood in the urine  blood in the stool  deep bruises  large, unexplained bruises  excessive bleeding  bleeding gums  frequent nosebleeds  pain in the joints  tight joints  irritability (in children)
  • 14. Clinical Evaluation  Clinical picture and family history of the disease on maternal side.  Hemophilia A and B are more common in males than females because of genetic transmission.
  • 15. Investigation  Blood test –  clotting time is prolonged.  Bleeding and prothrombin times are normal  Clot retraction is also normal.  Prothrombin consumption is low  Thromboplastin generation is high  Platelet count is normal.  Radiology –  It should be done in case of hemarthrosis.  Initially, there is distention of the joint cavity and synovitis.  later, the changes include areas of synovial thickening, demineralization, erosion and contracture.
  • 16. Antenatal Diagnosis  It is possible at 18-20 weeks of gestation.
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  • 18. Local treatment  Cleansing the open injury  Apply local pressure  Immobilize wounds by bandages, splinting.  Elevate the affected part  Pain is relieved by analgesics  During recovery phase physiotherapy
  • 19. Replacement therapy  Factor VIII concentration is available as plasma derived and recombined.  Intravenous infusion to correction of deficiency of factor VIII.  Indications of replacement therapy –  Early treatment of spontaneous bleeding  Severe or prolonged wound and tissue bleeding  Control of bleeding during and after surgery and trauma.
  • 20. Nontransfusion therapy in Hemophilia  DDAVP (1-amino – 8-D- arginine vasopression)  Indication – minor bleeding and minor surgery  Antifibrinolytic drugs  Indications – to control bleeding in the gums, nasal bleeding, gastrointestinal tract, during oral surgery and menstruation  Drug used – epsilon aminocaproic and tranexamic acid