Laboratory investigation

May be difficult to diagnose in neonate, especially if post-transfusion. Often have to wait until clinically stable some weeks/months later.

• Exclude acquired disorders, and immune lysis (DAT).

• RBC morphology is one key to diagnosis and further investigation, but spherocytes not specific for HS.

• Further tests for suspected

- Membrane defect (osmotic fragility, autohaemolysis, membrane chemistry).

- Hb defect; Hb electrophoresis, HbF, A2 measurement.

- Enzyme defect; Heinz body prep, screening tests for specific enzymes, G6PD, PK.

- Drug or chemical induced in neonate without hereditary defect.

- Enzyme deficiency: G6PD commonest but consider others.

- Unstable Hb.

- a thalassaemia.

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