Overview
Aplastic anaemia is characterised by pancytopenia due to the bone marrow being unable to generate new mature cells. There is no abnormal bone marrow infiltrate or marrow fibrosis. This section is a summary of aplastic anaemia.
Causes
Acquired
- Idiopathic (70%) of cases
- Congenital e.g. Fanconi anaemia
- Infection: parvovirus B19, Epstein-Barr virus (EBV), HIV, hepatitis
- Drugs: NSAIDs, chloramphenicol, carbamazepine, phenytoin
- Aplastic crises in sickle-cell anaemia
It may be helpful to look at the chapter on Anaemia: Data Interpretation alongside reading this section to help wrap your head around when to suspect what type of anaemia.
Example History
A 29-year-old man has had a heavy nosebleed that required cauterisation to stop. His medical history consists of epilepsy and he takes phenytoin.
Investigations:
Haemoglobin: | 92 g/L | (115 – 140 g/L) |
Platelets: | 24 x 109/L | (150 – 450 x 109/L) |
Mean cell volume (MCV): | 95 fL | (76.0 – 98.0 fL) |
White blood cells (WBC): | 1.1 x 109/L | (5.0 – 12.0 x 109/L) |
Presentation
Patients often present with the following:
- Features of anaemia:
- Features of thrombocytopenia:
- Abnormal bruising
- Prolonged bleeding
- Severe infection due to decreased white cell counts
Investigations
All patients
- FBC and differential:
- There must be two of the following:
- Haemoglobin <100 g/L
- Platelet count <50 x 109/L
- Neutrophil count <1.5 x 109/L
- There must be two of the following:
- Reticulocyte count:
- Usually low due to the bone marrow being unable to generate new cells
- Bone marrow biopsy:
- Definitive diagnostic test, shows hypocellular marrow with no abnormal cells
Other investigations
Other investigations should be considered to find an underlying cause:
- B12 and folate
- LFTs
- HIV testing
- Autoantibodies
- Chest x-ray for malignancy
- Abdominal ultrasound for malignancy
Diagnosis
To diagnose aplastic anaemia, there must be two of the following:
- Haemoglobin <100 g/L
- Platelet count <50 x 109/L
- Neutrophil count <1.5 x 109/L