Diagnosis and investigation

• FBC and blood film show pancytopenia, MCV may be 4, film morphology unremarkable.

• Reticulocytes usually absent.

• BM aspirate and trephine show gross reduction in all haemopoietic tissue replaced by fat spaces—important to exclude hypocellular MDS or leukaemia—the main differential diagnoses.

• Flow cytometry using anti-CD55 and anti-CD59 will show lack of both membrane proteins. Ham's acid lysis test is now largely obsolete.

• Specialised cytogenetics on blood to exclude Fanconi syndrome (see p456).

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