Haemophilia

Haemophilia is an inherited, X-linked lifelong bleeding disorder which affects males almost exclusively.

Clinical presentation

Spontaneous muscle and joint bleeding without injury,
Prolonged bleeding after injury,
Epistaxis and easy bruising.
Complication includes arthropathy and disability.

Haemophilia A (Factor VIII deficiency)

Is the most common of the hereditary clotting factor deficiencies and are caused by deficiency of factor VIII.

Haemophilia B (Factor IX deficiency)

It is caused by deficiency of clotting factor IX
Presentation as in Haemophilia A, this is less common 20%.

Classification of Haemophilia

Haemophilia is classified as mild, moderate or severe according to the levels of circulating factor VIII or IX and indicates the expected frequency of bleeding.

Table 3.3: Classification of Haemophilia

Classification	Haemophilia A Factor VIII level	Haemophilia B Factor XI level	Clinical Features
Severe	<1% of normal ≤ 0.01 U/ml	≤ 1% of normal ≤ 0.01U/ml	Spontaneous haemorrhage Frequent spontaneous haemarthrosis
Moderate	2-5% of normal 0.01-0.05 U/ml		Haemorrhage secondary to trauma or surgery Occasional spontaneous haemarthrosis
Mild	5-40% of normal	5-40% of normal	Haemorrhage post trauma or surgery Rare spontaneous

Investigations

Prolonged aPTT but normal PT and Platelets counts
Confirm by factor VIII or IX assay

Non-pharmacological Treatment

Avoid I.M injections and use small gauge needles if necessary
Inform the patient and parents thoroughly on the problem, and provide means of alerting other medical/pharmaceutical personnel
Genetic counselling
For Acute Bleeding episodes (RICE): Rest, Ice/cold pack – 5 minutes on, 10 min off, Compression and Elevate the joint.

For haemarthrosis – AVOID incising or aspiration of the affected joint. Treat by replacing the specific factor e.g factor 8 or 9 concentrate if available or FFP (10 - 15ml/kg), joint support and tabs Paracetamol for pain.

Pharmacological Treatment

Avoid use of NSAIDs, instead use paracetamol

Haemophilia A (Factor VIII Deficiency) no Inhibitor
Dose depends on bleeding severity

Minor bleed:

S: Factor VIII (IV) 20–40IU/kg.

Major bleed:

S: Factor VIII (IV) 50–100 IU/kg 12hourly for 3-5days or until bleeding stops

Expected response: 1IU/kg = 2% rise in factor VIII level

Half life Factor VIII: 8–24hours

Haemophilia B (Factor IX deficiency) no inhibitor
Dose depends on bleeding severity

Minor bleed:

S: Factor IX (IV) 20-50IU/kg
Major bleed:

S: Factor IX (IV) 100IU/kg

Expected response: 1IU/kg= 1.5 rise in the factor IX level

Half-life Factor IX: 16–24 hrs

D: Fresh frozen plasma (FFP) can be used where factor concentrate is unavailable.
Average dose 10-15mls/kg

Note:

If there is no response to appropriate replacement therapy tests for inhibitors (an inhibitor is formed when one develops antibodies against factor concentrates)
Detection of inhibitor is by aPTT mix study and confirmed by Bethesda assay (BU)

Factor VIII Inhibitor Management Options

High dose factor concentrate infusion
Use by-pass agent like FEIBA (Factor Eight Inhibitor By-passing Agent)
Immune tolerance induction therapy (ITI)
In case of emergency surgery consider plasmapheresis
Adjuvant antifibronolytic agents eg Tranexamic acid can used with either of the above

Note:

All patients suspected with haemophilia A or B refer to higher facility with adequate expertise or consult haematology Unit.
Children with severe haemophilia are recommended to be on low dose prophylaxis of factor concentrate
Male circumcision should be done at a hospital where factor concentrate is available. Concentrate should be given before and after the procedure.