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Investigations

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Blackfan-Diamond disease results in a normochromic, normocystic anaemia with absolute reticulocytopaenia. White cell and platelets are normal or decreased. Secondary hypersplenism may cause pancytopenia. The marrow is cellular but there is erythroid hypoplasia. The remaining erythroid cells are immature. Myeloid cells and megakaryocytes appear normal.

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