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.
5.
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
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.
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