To education of health

1. HAEMOPHILIA

2. HAEMOPHILIA A
-X linked recessive genetic disorder of
coagulation
-Affects males
-It results from a deficiency of Factor 8 (anti-
haemophilic factor)
-Factor 8 is primarily synthesized by the liver
-Incidence – 1 in 10,000 males

3. Acquired haemophilia A occurs due to presence
of antibodies against factor 8
-More common in the elderly
-In about 50 percent cases no underlying disease
is present
-Associated with autoimmune disorders,
maligancies, pregnancy, drugs (penicillin,
phenytoin)

4. CLINICAL FEATURES
Characterized by excessive bleeding.
Spontaneous bleeding usually occurs after 6
months of age, in severe cases it can oocur in
the first month also
When bleeding follows trauma – it is
characteristically “delayed”

5. Bleeding into joints (Haemarthroses)
-Recurrent bleeding into large joints especially
knees, elbows, ankles, wrists and hips
-In the acute stage joint is swollen, hot, tender
and movements are severely restricted. All
these subside gradually over a period of days
-Repeated haemarthroses result in deformity,
crippling and disuse atrophy of muscles
around the joint

6. Bleeding into muscle
-Muscle haematomas are common in calf and
psoas muscle
-Psoas haematomas may compress the femoral
nerve resulting in sensory disturbances over
thigh and quadriceos weakness
-Calf haematomas can result in contraction and
shortening of the Achilles tendon

7. Other Bleeding manifestations
-Bleeding from wounds
-Bleeding from sockets after dental extraction
-Easy bruising
-Retroperitoneal, mesenteric and intra-
abdominal bleeding
-Intracranial haemorrhage

8. GENETICS
-X linked recessive disorder
-A haemophilic patient’s daughters will all be
carriers while sons will be normal
-A carrier female has 50% chance of producing a
haemophilic male or a female carrier
-Females can be haemophilic if she is born to an
affected father and a carrier mother
-Nearly 30% occur due to spontaneous mutation
with no family history

9. CLASSIFICATION
Haemophilia A is classified based on the factor 8
activity in blood
Mild - > 5% of normal activity
Moderate – 1-5% of normal activity
Severe - <1% of normal activity

10. INVESTIGATIONS
-BT, PT and platelet counts are normal
-Activated partial thromboplastin time (aPTT) is
typically prolonged
-Specific factor 8 assay can confirm the diagnosis

11. ANTENATAL DIAGNOSIS
Chorionic villous sampling at 8-9 weeks of
gestation, sex determination of foetus and
using informative factor 8 probes

12. MANAGEMENT
Routine immunisation should be given
subcutaneously using a thin needle
Given the risk of exposure to blood products,
patient should be vaccinated against Hepatitis
B

13. LOCAL TREATMENT
• Wounds and mucous membrane bleeding
-Local pressure, pressure bandages or sutures
-Haemostatics like adrenaline
-Immobilisation of wound by bandages, splinting

14. • Haematomas and Haemarthroses
- In acute stage , elevation of the affected part
and immobilisation by bsplinting and
bandages. Pain is relieved by analgesics like
paracetamol
- Once acute stage is over, patient should be
mobilized and should receive physiotherapy

15. REPLACEMENT THERAPY
-Replacement therapy is aimed at rapid
correction of factor 8 deficiency
-Agents currently used for replacement therapy
are cryoprecipitate and factor 8 concentrate
given iv

16. Indications for Replacement Therapy
• Early treatment of spontaneous bleeding
episoded
• Established severe or prolonged wound and
tissue bleeding
• Control of bleeding during and after surgery and
trauma
-Prophylactic infucion (once every 2-3 days) is
recommended at present in all patients with
severe haemophilia so as to prevent arthropathy

17. Dose of Factor 8 = Desired factor level (%) *
Weight (kg) * 0.5

18. DESMOPRESSIN
Causes release of stored vWF and Factor 8 from
endothelial cells into plasma
Indications are minor bleeding and minor
surgery

19. EPSILON AMINO CAPROIC ACID AND
TRANEXAMIC ACID
These are anti – fibrinolyic agents that exert
their effect by inhibiting the proteolytiv
activity of plasmin, and therefore inhibits
fibrinolysis
When used concurrently with replacement
therapy, these agents can reduce factor 8
requirements

20. Treatment of patients with inhibitors
against Factors
• Use of bypassing agents such as recombinant
factor 7a or prothrombin complex
concentrates
• Eradication of the inhibitor by means of
immune tolerance induction, after succesful
immune tolerance, patients continue on
regular factor infusions