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Am J Hematol. 2008 Apr;83(4):275-8.

Association between myeloid malignancies and acquired deficit in protein 4.1R: a retrospective analysis of six patients.

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Laboratoire d'Hématologie, Centre de Référence des Maladies Constitutionnelles de l'Erythropoïèse et du Globule Rouge, Hôpital Bicêtre, AP-HP, 78 rue du Général Leclerc, Le Kremlin-Bicêtre, France.


Constitutional deficit in the erythroid protein 4.1 (4.1R), a structural component of the erythrocyte membrane, is implicated in hereditary elliptocytosis. Acquired deficit in protein 4.1R have been rarely described in myelodysplastic syndromes. Here, we report a series of six patients presenting a myelodysplastic or a myeloproliferative disease in association with an elliptocytosis curve on osmotic gradient ektacytometry and a significant decrease in protein 4.1R level. We confirm that deficit in protein 4.1R is recurrent in myeloid malignancies and should be particularly investigated when deletion del (20 q) is present, since we found this chromosomal abnormality in four out of six patients.

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