title: Association between myeloid malignancies and acquired deficit in protein 4.1R: a retrospective analysis of six patients.
abstract: 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.
authors.affiliation: 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.
authors.forename: Cécile
authors.initials: C
authors.lastname: Alanio-Bréchot
authors.forename: Pierre-Olivier
authors.initials: PO
authors.lastname: Schischmanoff
authors.forename: Madeleine
authors.initials: M
authors.lastname: Fénéant-Thibault
authors.forename: Thérèse
authors.initials: T
authors.lastname: Cynober
authors.forename: Gil
authors.initials: G
authors.lastname: Tchernia
authors.forename: Jean
authors.initials: J
authors.lastname: Delaunay
authors.forename: Loïc
authors.initials: L
authors.lastname: Garçon
mesh_terms: D000368:Aged; D001797:Blood Protein Electrophoresis; D002869:Chromosome Aberrations; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002999:Clone Cells / Q000648:ultrastructure; D003598:Cytoskeletal Proteins / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D004907:Erythrocyte Deformability; D004910:Erythrocyte Membrane / Q000737:chemistry; D004913:Erythrocytes, Abnormal / Q000737:chemistry*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000032:analysis / Q000172:deficiency* / Q000235:genetics; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000097:blood* / Q000235:genetics / Q000473:pathology; D009196:Myeloproliferative Disorders / Q000097:blood* / Q000235:genetics / Q000473:pathology; D012189:Retrospective Studies; D017384:Sequence Deletion
chemical_list: D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C028841:erythrocyte membrane band 4.1 protein