Summary
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1.
In one family four out of eight children have died with pigmentation, pancytopenia and progressive bone marrow failure. The disease was an incomplete form of Fanconi’s aplastic anaemia.
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2.
The family have been under observation for eight years. The clinical manifestations and haematological findings of the affected siblings are described.
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3.
Various methods of management have been tried; iron therapy is contraindicated; blood transfusion should be used sparingly as it may eventually depress bone marrow function. Splenectomy reduces blood transfusion requirements, improves survival, but does not prevent eventual marrow failure and death. Hormone therapy, either with eorticosterone or testosterone did not produce any significant benefit.
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4.
The main cause of death was intercurrent bacterial infection with septicaemia.
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Nelson, M.G., Lewis, J.T. & Robertson, J.H. Fanconi’s aplastic anaemia. Ir. J. Med. Sci. 39, 119–133 (1964). https://doi.org/10.1007/BF02945452
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DOI: https://doi.org/10.1007/BF02945452