A bone marrow biopsy has been carried out: (see below)
Aspirate shows erythroid hypoplasia but no dysplastic features. Cellularity is normal and megakaryocyte & granulocyte lineages are normal.
For interest, also see Trephine IHC with Glycophorin-C staining – demonstrating reduced but organised erythropoiesis.
Parvovirus serology is negative, EMA is normal, but eADA is elevated.
HbF 14% (elevated).
Mutational analysis has been sent.
It is now 2 weeks since her first transfusion.
1. What is your preferred diagnosis? What other differentials have you ruled out?
2. What treatment strategy would you employ at this point & why?
2. What can you do to minimise any problems from your treatment of choice?
3. What other investigations should be carried out in this patient based on your diagnosis?
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