Microcytic anaemia

Question 1

a 6 month old is noted by the GP to be very pale. The parents are not sure of the duration but have not noticed any recent sudden change. The infant is lethargic but does not appear acutely unwell. His family migrated from Spain 5 years ago. An FBC reveals an Hb of 56 with marked microcytosis.

Answer 1

Impression
Given marked microcytic anaemia in infant, concerned about inherited causes including thalassaemia (A/B) and spherocytosis.

Number of other causes.
- sepsis/infection
- other microcytic causes: anaemia chronic disease, iron deficiency, lead poisoning
- consider normo (haemolytic causes) and macrocytic causes.
- haematological malignancies
- other acute illness: blood loss

Question 2

Microcytic anaemia - History

Answer 2

History
- sx: onset, lethargy, malaise, SOB, pallor. any bleeding/trauma, bowel/urinary changes, diet and feeding hx, any infective sx
- RISKS: males, mediterannean ethnicity, family history
- paeds hx: development, blue book review, obstetric hx

Question 3

Microcytic anaemia - Examination

Answer 3

Examination
- general obs + vitals
- haem exam: signs of anaemia, hepatosplenomegaly, lymphadenopathy
- appearance: chipmunk face, prominent mandible
- general systems review (infection)
- examination features of haemolysis

Question 4

Microcytic anaemia - Investigations

Answer 4

Investigations
Key/diagnostic
- FBC + blood film, iron studies, coags, Hb electrophoresis
- genetic studies: alpha vs beta thal

• Bedside:
• labs: haemolysis screen (hapto, haemo, DAT, retics, etc), UEC, LFT, CRP/ESR, B12/Folate
• X-Ray for bone marrow dysplasia (skull xray)

Question 5

Microcytic anaemia - Management

Answer 5

Management
Depends on the underlying cause
- referral to paeds haematology/ other relevant sub-specialty for management of severe thalassaemia

Definitives
- Iron supplementation/infusion in the setting of iron deficiency
- Iron chelation therapy for any instances of iron overload (as already at increased risk due to ongoing transfusions)
- Bone marrow transplantation
- Regular blood transfusion
- Consider splenectomy
- folic acid for increased red cell turnover