• Hemophilia is an inherited bleeding disorder due to deficiency of plasma
coagulation factors. It is primarily found in males but transmitted by female
carriers. – Parul datta
• Hemophilia is a congenital bleeding disorder caused by the genetic lack of at
least one coagulation factor. – Dorothy R Marlow
• The term hemophilia refers to a group of bleeding disorders in
which there is a deficiency of one of the factors necessary for
coagulation of the blood.
• Hemophilia is due to congenital deficiency of plasma coagulation
factor VIII & factor IX.
Occur 1 in 5000 males
No racial prediction, found in all ethnic groups.
Hereditary (approximately 80% of patients)
Transmitted by asymptomatic in females
1. Hemophilia-A ( classical Hemophilia)- It occurs due to deficiency of plasma factor VIII, the
antihemophilic factor (AHF).
It accounts for 80 to 85% of all hemophilics.
Hemophilia- A can be classified based upon the factor VIII level in plasma, They are as follows.
Severe Hemophilia A- In this condition, the factor level is found less than 1 percent of normal
value patients have tendency of spontaneous bleeding & severe bleeding.
Moderate Hemophilia A- Factor level remains between 1 to 5 %of normal patients have no
spontaneous bleeding & may not have severe bleeding until any trauma occurs.
Mild hemophilia A- Factor level is in between 6 to 30 percent of normal patients usually lead
normal lives & bleeding only occurs in severe injury & surgical interventions.
2. Hemophilia-B (Christmas disease)- It results from deficiency of plasma factor IX,
the plasma thromboplastin componenet (PTC). It accounts for about 15-20% of
3. Hemophilia-C: It results from deficiency of factor XI, plasma thromboplastin
antecedent (PTA). It accounts for fewcases only.
Seldom excessive bleeding in neonates from umbilical cord
Prolonged bleeding follows circumcision, separation of umbilical
stump or dental eruption
Prolonged bleeding from lacerations in the nasal mucosa or oral
Spontaneous soft tissue hematomas
Hemorrhages into the joints (Hemarthrosis) especially in elbows,
knees & ankles causing pain, swelling & limitation of movement of
the involved joint.
Bleeding from any site of the body
Compartment syndrome due to compression of nerves by bleeding
into deep tissues
Degenerative joint disease, osteoporosis & muscle atrophy due to
Chronic hepatitis & cirrhosis due to contaminated cryoprecipitate
Transfusion related infections
1. Blood examination shows the following findings
o Prolonged clotting time & partial thromboplastin time.
o Reduced prothrombin consumption
o Increased thromboplastin level
o Bleeding time & prothrombin time are normal.
o Assays of specific clotting factors indicates deficient level
2. X-ray if the affected joints help to detect the severity & complications of Hemarthrosis
3. Gene analysis for antenatal diagnosis of hemophilia
4. DNA studies for detection of carrier of hemophilia.
The main objective of treatment is to ensure nearly to lead normal life for the child.
• Must replace missing coagulation factor through the administration of type specific
coagulation concentrates during bleeding episodes
• The specific management include the followings:
Replacement of missing coagulation factors is the important aspect of management
o Factor-VIII made from cryoprecipitate
o Factor VIII concentrate is transfused in hemophilia A
o Factor Ix made from fresh frozen plasma is administered for hemophilia B
o Fresh frozen plasma is given to supply factor XI.
Mild to moderate factor VIII deficient hemophiliacs may respond to
desmopressin which causes release of factor VIII from the endothelial
Fresh whole blood transfusion can be given if the commercially prepared
coagulation factors are not readily available.
Antifibrinolytics such as aminocaproic acid & tranexamic acid are given for
mucosal bleeding to prevent clot breakdown by salivary proteins & to
Supportive management in case of Hemarthrosis should include rest,
immobilization of joint, application of local cold & pressure bandage with
local application of thrombin powder or foam.
o Pain can be relieved by analgesic like paracetmol or NSAIDS.
o Aspirin, indomethacin & batezolidone are not used as they inhibit
platelet function & promote bleeding.
o Ambulation & exercise can be allowed after the acute phase is over. Later
local heat & physiotherapy should be given to prevent ankyloses of joint.
Synovectomy can be recommended to remove damage synovium
in chronically involved joints.
Orthotics can be used to prevent injury to affected joint & help to
Prophylactic measures to be taken to prevent complications
Genetic counselling & antenatal diagnosis should be arranged
especially with positive family history of hemophilia
Risk for fluid volume deficit related to hemorrhage
Pain related to bleeding joints
Potential for bleeding related to deficiency of clotting factors
Impaired physical mobility related to Hemarthrosis
Ineffective family coping related to life threatening illness.
Death may occur due to serious hemorrhage & obstructions due to
Cripple patients may need rehabilitative services.