Haemoglobin electrophoresis 3

Answers:

Control for both gels is a sickle cell trait (A+S).

1. On the alkaline gel - this could be a SC, SOArab or SE (not SA₂!). Helpfully the distinction has been made on the acid gel which shows that this is an SC - and you can request an HPLC to confirm.

2. This is a HbAJ - again - would require confirmation with HPLC. Genotyping in this case is probably not required as this is a non-pathological condition.

3. The two options here are either HbSS+ an additional haemoglobin, or a HbSF. The latter is exceptionally uncommon as a co-inheritance, and notice the F band is much fainter. So this is most likely to be HbSS plus a small band of HbF. This can have three possible causes:

• HbSS patient on hydroxycarbamide (which increase HbF percentage)
• HbS/Bthal (usually there is a small amount of HbF production)
• HbSS with hereditary persistence of fetal haemoglobin (HPFH)

4. This is a beta thalassaemia trait - which can be easily confirmed on an HPLC (this would ordinarily be done first without proceeding to electrophoresis). A faint band is present and the diagnostic criteria would be a relatively normal HbA peak plus HbA₂ of >3.5%.