Canterbury DHB
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The diagnosis of Aplastic Anaemia (AA) is established by examination of the blood and bone marrow. There is usually a pancytopenia, the red cells are normocytic or macrocytic, the reticulocyte count is inappropriately low, and neutropenia and thrombocytopenia occur to some degree in all patients. No abnormal white cells are present in the blood. The bone marrow is hypocellular and this is best assessed on trephine. There is a reduction of normal myeloid elements and a relative increase in lymphocytes, plasma cells, and mast cells.
Immunophenotyping of bone marrow is not helpful, but a PNH screen should be done on peripheral blood. Cytogenetics on bone marrow cells is normal in AA, but should be done if MDS is a possibility. Cytogenetic analysis on peripheral blood lymphocytes is essential if Fanconi Anaemia (FA) is suspected. In FA, HbF is often elevated. FA usually presents in the first decade of life. Onset may be delayed until the second or third decades. The characteristic congenital abnormalities are usually present. For more information on Fanconi Anaemia, see Huck et al.
If the patient is under 40 and a stem cell transplant is a potential treatment, HLA typing of the patient and family needs to be done urgently.
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Topic Code: 4922
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