Zambian Paediatric & Obstetrics-Gynecology (OB/GYN) Clinical Mastery

Haemophilia

Lesson Objectives

By the end of this lesson, learners should be able to:

Define haemophilia and differentiate between types A, B, and C.
Describe the genetic inheritance patterns and prevalence of haemophilia in Zambia.
Recognize the clinical signs and symptoms of haemophilia in children.
Identify appropriate investigations to confirm diagnosis.
Classify haemophilia severity and apply standard treatment protocols.
Manage bleeding episodes with factor replacement, supportive care, and adjunct therapy.
Provide guidance on vaccination, surgery, and routine follow-up for children with haemophilia.

Description

Haemophilia refers to inherited bleeding disorders caused by deficiency of specific coagulation factors. Haemophilia A results from factor VIII deficiency, haemophilia B from factor IX deficiency, and haemophilia C from factor XI deficiency. Haemophilia A and B are X-linked recessive; males are affected, females are carriers. Both conditions present similarly, requiring factor assays for precise diagnosis. Haemophilia C is autosomal and uncommon in Zambia.

Signs and Symptoms

Clinical Feature
Spontaneous or provoked bleeding
Large or deep bruises
Joint pain and swelling (hemarthrosis)
Excessive bleeding post-injury/surgery
Easy bruising
Menorrhagia
Nose bleeds
Unexplained bleeding, haematuria, haematochezia
Intracranial haemorrhage

Investigations

Test	Finding
APTT	Prolonged
PT	Normal
Platelet count	Normal
Factor assay	Confirms deficiency of Factor VIII or IX

Classification of Haemophilia

Severity	Factor Level
Severe	<1%
Moderate	1–4%
Mild	5–40%

Normal factor level: 50–200%
Recommended weekly prophylaxis: 25–40 IU/kg or more depending on clinical situation.

Sites of Bleeding

Non-life or Non-limb-threatening	Life- or Organ-threatening
Joints	Intracranial
Muscles	Muscle compartment
Easy bruising	Neck/throat
Mucosal bleeding (epistaxis, gingiva)	Massive gastrointestinal
Gastrointestinal	Genitourinary tract

Factor Replacement Therapy

Factor VIII (Haemophilia A)

Indication	Dose	Notes
Minor acute bleed	30 units/kg	1 unit/kg increases FVIII by 2%
Major acute bleed	50 units/kg	Half-life 8–12 hrs; may need 8–12 hr dosing
Follow-up	As per paediatric haematology plan	Round up to nearest vial

Factor IX (Haemophilia B)

Indication	Dose	Notes
Minor acute bleed	50 units/kg	1 unit/kg increases FIX by 1%
Major acute bleed	100 units/kg	Half-life 18–24 hrs; may need ≥24 hr dosing
Follow-up	As per paediatric haematology plan	Round up to nearest vial

If factors unavailable: Order Fresh Frozen Plasma (10–20 mL/kg IV over 1 hr).

Supportive Care (PRICE)

Protection
Rest/Replacement
Ice/Immobilization
Compression
Elevation

Adjunct Therapy: Tranexamic acid 10 mg/kg IV every 8 hours or 15–25 mg/kg orally for mucocutaneous bleeding. Contraindicated in urinary tract bleeds.

Pain Management

Causes: joint capsular stretching, haemophilic arthropathy, compartment syndrome
Goals: relieve pain without increasing bleeding risk, improve quality of life
Preferred: COX-2 inhibitors such as tramadol
Avoid: aspirin, antiplatelet agents, intramuscular injections

Vaccination and Surgery

Vaccines: standard pediatric vaccines without prophylactic factor cover
Apply ice for 5 min before injection, smallest gauge needle (25–27G), 10 min pressure after
Irritant vaccines (e.g., tetanus) require prophylactic clotting factor cover
Surgery: discuss with paediatric haematologist, elective or emergency

Routine Follow-up

Age	Visit Frequency	Laboratory Tests	Additional Checks
0–6 years	Every 3 months	Blood group (first visit), FBC, diff, retic count each visit, serum ferritin annually, Hep B/C/HIV serology annually	HJHS annually, emergency preparedness, vaccination check, haemophilia counselling
6–16 years	Every 6 months	Blood group (first visit), FBC, diff, retic count each visit, Hep B/HIV serology annually, serum ferritin annually	HJHS annually, assess readiness for self-infusion, emergency preparedness, begin transition assessments at 12 years

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