Case 99 – update 3

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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