Haemophilia A and B
Description Diagnostic criteria General and supportive measures Treatment guidelines Treatment – Acute management of bleeds ICD-10 code: D66.7/D66.8 DESCRIPTION Haemophilia A and B are lifelong chronic bleeding disorders caused by a lack of clotting factor VIII and clotting factor IX, due to mutations in the Factor VIII and Factor IX genes respectively. Acute bleeding presentation depends o
Description
Diagnostic criteria
General and supportive measures
Treatment guidelines
Treatment – Acute management of bleeds
ICD-10 code: D66.7/D66.8
DESCRIPTION
Haemophilia A and B are lifelong chronic bleeding disorders caused by a lack of clotting factor VIII and clotting factor IX, due to mutations in the Factor VIII and Factor IX genes respectively. Acute bleeding presentation depends on the severity of the condition (see classification below). Bleeding can occur into any tissue, but intraarticular bleeds are the clinical hallmark of haemophilia.
Haemophilia complications include haemarthrosis that may lead to chronic arthropathy, intracranial haemorrhage, soft tissue and muscle haematomas. In a known person with haemophilia, pain/tingling in a joint suggests early onset bleeding.
Haemophilia complications include haemarthrosis that may lead to chronic arthropathy, intracranial haemorrhage, soft tissue and muscle haematomas. In a known person with haemophilia, pain/tingling in a joint suggests early-onset bleeding.
Early consultation and regular follow-up with a haematologist or clinician with expertise in managing such patients is advisable. All patients diagnosed with haemophilia should attend a designated specialised Haemophilia Treatment Centre with a dedicated multi-disciplinary health care team at least annually for adults or six-monthly for paediatric patients. The details of available Haemophilia Treatment Centres can be accessed at: https://haemophilia.org.za/haemophilia-treatment-centres-htcs/. All patients diagnosed with haemophilia should be enrolled in the South African Bleeding Disorders registry (access relevant co-ordinators at: https://haemophilia.org.za/haemophilia-nurses-office/).
Those eligible for prophylaxis with factor VIII or IX (see below) may receive factor replacement therapy at a healthcare facility twice a week. Home-based care with self-infusion (parent/care-giver administration) of factor VIII or IX is the goal for all patients, if feasible.
Haemophilia severity classification
| Class | Clotting factor | Factor level | Signs |
| Mild | VIII or IX | > 5 – <40% | Occasional bleeds, usually after trauma or surgery. |
| Moderate | VIII or IX | 1-5% | Less frequent bleeds than severe; usually post trauma/surgery/dental extraction. Some patients may, however, display a severe bleeding phenotype. |
| Severe | VIII or IX | < 1% | Spontaneous bleeds, particularly joint and muscle. |
(Adapted from White et.al. Journal of Thrombosis and Haemostasis. 2001)1
DIAGNOSTIC CRITERIA
Clinical
- Major bleeds:
- central nervous system (CNS) - intracranial
- gastrointestinal tract
- severe injury
- neck/throat (airway)
- muscle compartment (e.g. forearm and calf)
- advanced joint and soft tissue
- hip and iliopsoas muscle
- Minor bleeds:
- early joint bleed
- muscle
- soft tissue
- epistaxis
- mouth and gum
- haematuria
- Pain/tingling in a joint of a patient with haemophilia suggests bleeding.
Investigations
Baseline
- Normal white cell count and platelets; may have anaemia due to blood loss or iron deficiency.
- Normal INR
- Prolonged activated partial thromboplastin time (aPTT)
- APTT correction studies
- Factor VIII or IX plasma level < 50%
- HIV, hepatitis B, and hepatitis C testing if status not known
Non-responders to factor replacement or those previously diagnosed with inhibitors
- Inhibitor screen (Bethesda or Nijmegen assays)
GENERAL AND SUPPORTIVE MEASURES
- Patient, family and community education
- Enrolment in the South African Bleeding Disorders registry (access relevant co-ordinators at: https://haemophilia.org.za/haemophilia-nurses-office/)
- Medic Alert bracelet (or similar)
- Dental care (see below for management of tooth extraction)
- Avoid contact sport
Exercise great caution when taking blood specimens (no arterial samples).
Taking blood from femoral veins is absolutely contra-indicated.
Do not insert or use central lines unless done as part of life-saving efforts.
Do not aspirate joints.
Avoid IM injections. Avoid aspirin and other NSAIDS.
TREATMENT GUIDELINES
Treatment approaches are divided into two main categories: prophylaxis and on-demand (episodic) treatment following a bleed.
Prophylaxis
Prophylaxis aims to prevent the number of bleeds and prevent or delay the development of joint arthropathy and other sequelae. Primary and secondary prophylaxis should be considered in consultation with a Haemophilia Treatment Centre.
In consultation with a Haemophilia Treatment Centre, prophylaxis is sometimes needed in patients presenting with a target joint.
Treatment on demand (Episodic treatment)
Episodic treatment for bleeding episodes is referred to as on-demand therapy (i.e. the use of factor replacement therapy when bleeding occurs).
Home treatment
Haemophilia Treatment Centres promote home treatment of bleeds. Patients or caregivers must be educated on the storage, reconstitution and administration of clotting factor concentrate and provided with a supply of clotting factor concentrate to be kept at home for use in case of a bleed and/or for prophylaxis. Clotting factor concentrate use and bleeding episodes are monitored through an appropriate chart (or bleeding diary), which can be reviewed at consultations and medication collection.
TREATMENT – ACUTE MANAGEMENT OF BLEEDS
For pain (as required):
Refer to Chapter 20: Pain Control
Do not use NSAIDs, including aspirin.
For bleeding episodes
Emergency treatment while awaiting transfer, if indicated.
If serious bleeding in a known patient with haemophilia, and no factor is available:
- Lyophilised plasma (FDP), IV, 20 mL/kg over 20-30 minutes. Lyophilised plasma contains a minimum of 0.4 units/mL of each coagulation factor.
OR
- Fresh frozen plasma (FFP), IV, 10 - 15 mL/kg over 20-30 minutes.
Acute joint bleeds – Infuse CFC, intravenous, first (refer to section Haemophilia A/Factor VIII deficiency (No inhibitors) or section Haemophilia B/Factor IX deficiency (No inhibitors) for dosing guidance) with the following adjunctive measures:
- Apply ice packs: 5 minutes on and 10 minutes off.
- Rest the affected joint/limb until pain-free and there is no further swelling.
- Avoid weight-bearing.
- Splint. Do not use circumferential casts.
- Elevate the affected limb.
- Do not aspirate affected joints.
- Do not request an X-ray of the affected joint unless there is a strong suspicion of a fracture.
Give clotting factor concentrate until the patient is pain-free and the joint's range of motion is normal. Administration should be 12 hourly (for Haemophilia A) for major bleeds but may be daily for minor bleeds.
For mucous membrane bleeding
- Tranexamic acid, oral, 15 - 25 mg/kg/dose 6-8 hourly.
- Contraindicated in haematuria.
- Use with caution with factor IX complex or factor VIII inhibitor-bypassing agent (FEIBA), preferably only 12 hours after administration of the factor.
For dental extraction/male circumcision/minor surgical procedures
Check that inhibitors are absent.
Admit for the procedure and post-procedure care and observation in a facility with experience in haemophilia management.
Haemophilia A:
- Factor VIII, intravenous, 50 units/kg, immediately before extraction.
AND
- Tranexamic acid, oral, 25 mg/kg/dose 6–8 hourly, starting 2 hours before the procedure and continued for 5 days post-procedure.
Haemophilia B:
- Factor IX/factor IX complex, intravenous, 40 units/kg, immediately before extraction.
Ideally, elective surgery should be performed at a tertiary centre in consultation with a clinical haematologist.
In emergencies, treat it as a major bleed and consult the local Haemophilia Treatment Centre as soon as feasible.
Click here for 3.6.1 Haemophilia A/Factor VIII deficiency (No inhibitors)
Click here for 3.6.2 Haemophilia B/Factor IX Deficiency (With No Inhibitors)
Click here for 3.6.3 Haemophilia with Inhibitors
Standard Treatment Guidelines and Essential Medicines List for South Africa Paediatric Hospital_2023 edition_Updated February 2025
Chapter 3: Blood and Blood-Forming Organs, 3.6 Haemophilia A and B