Patients’ blood film looks like this:
Ferritin level was also checked : 10 ug/l
Family origin questionnaire has been mentioned and should be performed at all antenatal visits. However all women – in both high prevalence and low prevalence areas are offered screening blood tests for thalassaemia using initial results from routine red blood cell indices.
The HPLC for this lady shows:
HbA2 level of 3.8%
How would you interpret this?
What are the potential causes of a raised A2 result?
Both parents are from Italy.
What do you do next?
mostly beta thalassemia carrier for further confirmation by PCR for Mediterranean beta thalassemia gene mutations and investigating her partner also
Thanks for comments: we agree. We try and keep comments on Twitter though as more dynamic: hope you’ll join the case there with @teamhaem