Haemophilia

Disclaimer These guidelines have been produced to guide clinical decision making for the medical, nursing and allied health staff of Perth Children’s Hospital. They are not strict protocols, and they do not replace the judgement of a senior clinician. Clinical common-sense should be applied at all times. These clinical guidelines should never be relied on as a substitute for proper assessment with respect to the particular circumstances of each case and the needs of each patient. Clinicians should also consider the local skill level available and their local area policies before following any guideline.  Read the full CAHS clinical disclaimer

Aim 

To guide staff with the assessment and management of haemophilia.

Background 

• Haemophilia is an X-linked congenital bleeding disorder caused by a deficiency of the coagulation factors F VIII (in haemophilia A) or F IX (in haemophilia B).1
• Prophylaxis is the standard of care in children with severe haemophilia. Timing of commencement, product type and dosing will be guided by their treating Haematologist. Treatment can be intravenous or subcutaneous depending on the product.

Key Principles

• Prompt treatment of bleeding complications is required in patients with haemophilia.
• Supplies of recombinant factor VIII and factor IX are kept in the fridge in Transfusion Medicine (Haematology laboratory)
• All presentations to the Emergency Department should be discussed with the on-call Haematologist before any treatment is instituted.
• Please refer to Haematology Transfusion Medicine Protocols (internal WA Health access only) for further information.
• Mild Haemophilia is not usually treated with prophylactic factor replacement but can still be a cause of severe bleeding problems and may require urgent factor replacement therapy or desmopressin (DDAVP). Refer to Desmopressin - PCH Monograph (internal WA Health access only).

Haemophilia A: Factor VIII deficiency¹

This is a sex-linked condition due to factor VIII deficiency.

Haemophilia is defined as¹:

Severity (clotting factor level)	Sign
Severe: <1IU/dl or <1% of normal	Spontaneous bleeding into joints/muscles
Moderate: 1-5IU/dl or 1-5% of normal	Occasional spontaneous bleed. Prolonged bleed with minor trauma/surgery
Mild: 5-40 IU/dl or 5% - 40% of normal	Severe bleeding with major trauma/surgery

Prophylactic treatment

• Prophylaxis prevents bleeding and joint destruction, with the aim to preserve musculoskeletal function.
• Despite prophylactic treatment, patients with moderate and severe haemophilia may still occasionally present with spontaneous joint bleeding and require additional factor therapy.
• Approximately 10% of patients with Haemophilia A may develop inhibitors to treatment – this usually occurs in the first ten treatments.
  • Treatment of patients with inhibitors is difficult and may require bypassing agents such as Factor VIIa.

Management

• Mucosal bleeding is a common problem in young children and can be treated with antifibrinolytic therapy using tranexamic acid.
  • Advice about specifics of treatment should be sought from a Clinical Haematologist including relevant contraindications, precautions and dosing in renal impairment
  • Dose: 1 month – 18 years, oral 15–25 mg/kg (maximum 1.5 g) 2 or 3 times daily² (round to the closest 250mg)

Head injury¹

All presentations to the Emergency Department should be discussed with the on-call Haematologist

• Head trauma/suspected intracranial haemorrhage is a medical emergency.
• Treatment must be administered immediately – give recombinant Factor VIII (aim for desired level 80-100IU/dL initially)1. For minor knocks to the head, such as contact with furniture or doors, factor treatment may not need to be administered.
• Investigations including relevant scans, bloods and consultations can follow.
• Admit to hospital if there is any suspicion of concussion or persistent headache or vomiting. 

Joint or muscle bleed¹

• Prompt administration of Factor VIII concentrate in suspected bleed whilst awaiting imaging.
• Protection of joint, immobilization, cold compress, splint, compression bandage and crutches may be required (PRICE)
• Analgesia may be required. Avoid non-steroidal anti-inflammatories (NSAIDs) other than certain COX-2 inhibitors. Paracetamol is first line therapy. Consider tramadol and opiate analgesia if required.
  

Haemophilia B (Christmas Disease): Factor IX deficiency¹

• This is a sex-linked condition with factor IX deficiency. The presentation is identical to haemophilia A with similar factor levels.
  • The treatment of choice is recombinant Factor IX (BeneFIX®).
  • Most patients with severe factor deficiency are treated with prophylactic infusions, given twice weekly.
  • Inhibitors to factor IX are less common but can present with allergic manifestations.

Head injury with Factor IX Deficiency

The same principles apply as for haemophilia A – discuss with Clinical Haematologist on call to determine the dose required.

References

1. Australian Haemophilia Centre Directors’ Organisation and National Blood Authority. Guidelines for the management of haemophilia in Australia, 2016.
2. AMH Children’s Dosing Companion. Tranexamic Acid. 2021. Australian Medicines Handbook Pty Ltd

Bibliography

1. Textbook of Paediatric Emergency Medicine 2nd Edition Cameron Elesevier 2012
2. Nelson Textbook of Pediatrics: 20th Edition Robert M. Kliegman, Bonita M.D. Stanton, Joseph St. Geme, Nina F Schor Publisher: Elsevier
3. Textbook of Pediatric Emergency Medicine, Fleisher, Gary R. Ludwig, Stephen. 6th Edition. 2010

Reviewer/Team:	ED Head of Department, Consultant Haematologist, Clinical Pharmacist, Infectious Diseases Consultants	Last reviewed:	Feb 2022
		Review date:	Feb 2025
Endorsed by:	Drugs and Therapeutics Committee	Date:	Jun 2022

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