Hematological disorder

1. Hemophilia
Ms. K. Lavanya
MSc(N)-CHN
Associate Professor

2. Definition:
• 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

3. Definition:
• 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.
Wong’s
• Hemophilia is due to congenital deficiency of plasma coagulation
factor VIII & factor IX.
O.P.Ghai

4. Incidence:
Prevalence:
 Occur 1 in 5000 males
 No racial prediction, found in all ethnic groups.
Etiology:
 Hereditary (approximately 80% of patients)
 Transmitted by asymptomatic in females

5. Classification:
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.

6. 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
cases.
3. Hemophilia-C: It results from deficiency of factor XI, plasma thromboplastin
antecedent (PTA). It accounts for fewcases only.

7. Pathophysiology:

9. Clinical Manifestations:
 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
cavity
 Spontaneous soft tissue hematomas
 Spontaneous bleeding

10. Contd….
 Hemorrhages into the joints (Hemarthrosis) especially in elbows,
knees & ankles causing pain, swelling & limitation of movement of
the involved joint.
 Spontaneous hematuria
 GI bleeding
 Bleeding from any site of the body
 Intracranial hemorrhage

11. Complications:
 Airway obstruction
 Intestinal obstruction
 Compartment syndrome due to compression of nerves by bleeding
into deep tissues
 Degenerative joint disease, osteoporosis & muscle atrophy due to
repeated Hemorrhage.
 Chronic hepatitis & cirrhosis due to contaminated cryoprecipitate
 Transfusion related infections

12. Diagnostic Evaluation:
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.

13. Management:
• Objective:
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.

14. Management:
 Mild to moderate factor VIII deficient hemophiliacs may respond to
desmopressin which causes release of factor VIII from the endothelial
stores.
 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
promote hemostasis.

15. Management:
 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.

16. Management:
Synovectomy can be recommended to remove damage synovium
in chronically involved joints.
Orthotics can be used to prevent injury to affected joint & help to
resolve hemorrhages.
Prophylactic measures to be taken to prevent complications
Genetic counselling & antenatal diagnosis should be arranged
especially with positive family history of hemophilia

17. Nursing Diagnosis:
 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.

18. Prognosis:
 Death may occur due to serious hemorrhage & obstructions due to
bleeding.
 Cripple patients may need rehabilitative services.