Abnormal erythrocyte band 4.1 protein in myelodysplastic syndrome with elliptocytosis

Abstract

A case of myelodysplastic syndrome with haemolytic anaemia and a marked elliptocytosis is reported. Sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) of erythrocyte membrane proteins revealed that the patient's band 4.1 was decreased to about 50-70% of that of control and contained abnormal molecule migrating in a faster mobility than normal band 4.1, which was confirmed by immunoblotting. The actin/spectrin ratio of the patient's ghosts diminished to about 70% of that of control ghosts. Flowcytometric analysis showed that the glycophorin C content of the patient's erythrocytes was reduced but maintained the level of about 70% of that of normal, indicating that the glycophorin C-band 4.1 interaction might not be so seriously damaged as to cause elliptocytic shape change. We postulate that the abnormal band 4.1 produced from the abnormal erythroid clone may be the primary molecular defect and result in a dysregulation of spectrin-actin interaction to cause erythrocyte shape change and membrane instability.

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

“…This chromosomal deletion occurring in an early hematopoietic precursor has drastic consequences on megakaryocytic and erythroblastic differentiation [16]. We found this deletion in four patients over six and two other cases have been reported before [7,10]. Deletion del (20q) could lead to the loss of one gene located in the same area and implicated in the trans-regulation of the EBP41 gene.…”

“…For two of them, elliptocytosis was clearly related to a qualitative or quantitative alteration in protein 4.1R [7,10]. We report here six patients with MDS or CMPD and an acquired deficit in protein 4.1R.…”

Reversible erythrocyte skeleton destabilization is modulated by beta-spectrin phosphorylation in childhood leukemia

“…19 Several acquired abnormalities of erythrocytes and platelets have been described in leukemia and myelodysplastic syndromes. Some examples of these abnormalities are acquired thalassaemia, 20,21 abnormal piruvate kinase, 22 size and shape changes of erythrocytes, [23][24][25] erythrocyte membrane defects, [26][27][28][29][30][31][32][33] platelet defects of von Willebrand factor 34 and of membrane glycoproteins. 35 Here, we further investigated the erythrocyte membrane abnormalities in childhood leukemias.…”

Spurious automated white cell count wiht Coulter STKS in the myelodysplastic syndromes suggests the presence of a red cell membrane defect

“…mean corpuscular volume 105. 4 To the Editor; We report the case of a young woman with cerebral venous thrombosis associated with the presence of anticardiolipin antibodies and a transient protein S deficiency, suggesting a role for the antiphospholipid antibodies (aPL) in reducing the free protein S levels, thus determining bypercoagulable state with cerebral and venous thrombosis. aPL have been found to be associated with recurrent spontaneous abortions and systemic arterial and venous thrombosis, as well as thrombosis of the cerebral vessels [1,2].…”

“…aPL have been found to be associated with recurrent spontaneous abortions and systemic arterial and venous thrombosis, as well as thrombosis of the cerebral vessels [1,2]. Recently, cases of deep vein thrombosis or severe diffuse thromboembolic disease associated with the transient presence of anticardiolipin antibodies (aCL) and functional protein S deficiency have been reported [ 3 ] , suggesting a new, possibly autoimmune mechanism [4] for the thrombosis in the primary aPL syndrome. Low levels of free…”