2. HEMOPHILIA
DR. TARIQ SAEED
Assistant Professor
Paediatric Department
Holy Family Hospital Rawalpindi

3. Definition

Hemophilia A (factor VIII deficiency) and
hemophilia B (factor IX deficiency)
Rare bleeding disorders due to inherited deficiencies
of coagulation factors

4. Types


Haemophilia A (Classic) Factor VIII
deficiency
Haemophilia B (Christmas Disease) Factor
IX deficiency

5. Hemophilia A & B

clinically similar:

occur in approximately 1 in 5,000 male births

account for 90% of congenital bleeding
disorders

Hemophilia A is approximately 5 times more
common than B

6. Etiology



Inherited as a sex linked recessive trait with bleeding
manifestations only in males
genes which control factor VIII and IX production are
located on the x chromosome; if the gene is
defective synthesis of these proteins is defective
female carriers transmit the abnormal gene

8. PATHOPHYSIOLOGY
 Factors
VIII and IX participate in a complex
required for the activation of factor X.
 After injury, the initial hemostatic event is
formation of the platelet plug, together with
the generation of the fibrin clot that prevents
further hemorrhage. In hemophilia A or B,
clot formation is delayed and is not robust.

9. Disease Severity



severity is dependent on blood levels of
functioning factor VIII or IX
severity varies markedly between families but
is relatively constant among family members
in successive generations
remains relatively unchanged throughout life

10. Classification
% normal
factor level
Causes of bleeding
Severe
< 1%
bleeding after trivial injury
or spontaneous
Moderate
1 - 5%
bleeding after minor injury;
occasional spontaneous
bleeds
Mild
6 - 30 %
following major trauma,
surgical or dental
procedures

11. Clinical Features – Joint Bleeds


Joints (Hemarthrosis)
 Knees, ankles and elbows most common sites
 begin as the child begins to crawl and walk
 many bleeds occur between the ages of 6 and 15
years
Single joint bleed: stiffness, swelling, pain, loose
pack position

12. Sub Acute Hemarthrosis




Develops after repeated bleeds into the joint
Synovium becomes inflamed
Hypertrophy, hyperplasia and increased
vascularity of synovial membrane
Hemosiderosis: hemoglobin of intra articular
blood is degraded and iron deposited into the
joint space

13. Chronic Arthropathy




Progressive destruction of a joint
Pannus (inflammed synovium), & enzymes
begin to destroy articular cartilage
Microfracture and cyst formation in
subchondral bone
End stage: firbrous joint contracture, and
disorganization of articular surfaces

15. Clinical Features – Muscle Bleeds





Bleeding into muscle or soft tissue
Less tendency to recurrent bleeds
Sites: iliopsoas, calf, upper arm and forearm,
thigh, shoulder area, buttock
Symptoms: pain, swelling, muscle spasm
Complications: nerve compression,
contracture

16. Other Sites of Hemorrhage




Abdomen
GI tract
Intracranial bleeds
Around vital structures in the neck

17. LABORATORY FINDINGS AND
DIAGNOSIS
 Factor
VIII or factor IX deficiency leads to
prolongation of APTT.
 In severe hemophilia, APTT is usually 2–3
times the upper limit of normal.
 All other screening tests of with in normal
limit.

18.  The
specific assay for factors VIII and IX will
confirm the diagnosis of hemophilia.

19. Management

Replacement of missing clotting factor



Plasma products
Cryoprecipitate
Concentrates of Factor VIII Factor IX

20.  Early,
appropriate therapy is the hallmark of
excellent hemophilia care.
 Mild to moderate bleeding, levels of factor
VIII or factor IX must be raised to hemostatic
levels in the 35–50% range.
 For life-threatening or major hemorrhages,
the dose should aim to achieve levels of
100% activity.

21. Role of Desmopressin in Hemoplhilia A
 With
mild factor VIII hemophilia, the patient's
endogenously produced factor VIII can be
released by the administration of
desmopressin acetate.

22. Other Medical Treatment





Analgesics (no aspirin)
Good dental care
Education – life long management
Psychological counseling
Acute and long term management of
musculoskeletal problems

23. Musculoskeletal Management

Acute Bleeds:




Immediate replacement factor
Immobilize joint
No weight bearing
Immediate medical attention if complications arise

24. Musculoskeletal Management

After 24 hours:




Continue minimal or no weight bearing for lower
extremity bleed
Active range of motion; gentle stretching
Corrective positioning (splinting ??)
Isometric strengthening; progress to isotonic

25. Musculoskeletal Management





Long term:
Repeated musculoskeletal examination (annual or
biannual)
Measurement of leg length, girth, ROM, strength,
gait, function
Physiotherapy treatment: based on assessment
findings
Prophylactic factor replacement

usually provided every 2–3 days to maintain a measurable
plasma level of clotting factor (1–2%) when assayed just
before the next infusion (trough level).

26. Education of Patient and Family




Importance of early factor replacement
Use of helmet when riding tricycle/bicycle
Sports: contact sports discouraged for severe
hemophiliacs; swimming, cross country
skiing, tennis, golf, baseball, bicycling –
generally considered safe
Footwear

27. CHRONIC COMPLICATIONS
Long-term complications of hemophilia A
and B include
 Chronic arthropathy
 Development of an inhibitor to either factor
VIII or factor IX,
 Risk of transfusion-transmitted infectious
diseases.