Hemophilia

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

Hemophilia

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Hemophilia