Elliptocytosis and Schistocytosis in Myelodysplasia: Report of Two Cases

Rummens, Jean-Luc; Verfaillie, Catherine M.; Criel, A.; Hidajat, M.; Vanhoof, A.; Berghe, Herman Van den; Louwagie, A.

doi:10.1159/000206114

Cited by 32 publications

(15 citation statements)

References 5 publications

(8 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Eight cases of secondary elliptocytosis have already been reported in MDS (n 5 7) or CMPD [5][6][7][8][9][10]11]. For two of them, elliptocytosis was clearly related to a qualitative or quantitative alteration in protein 4.1R [7,10].…”

Section: Resultsmentioning

confidence: 95%

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

et al. 2007

View full text Add to dashboard Cite

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.

show abstract

Section: Resultsmentioning

confidence: 95%

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

et al. 2007

View full text Add to dashboard Cite

show abstract

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Perrotta¹,

Giudice²,

Iolascon

et al. 2001

Leukemia

View full text Add to dashboard Cite

The erythrocyte skeleton plays an essential role in determining the shape and deformability of the red cell. Disruption of the interaction between components of the red cell membrane skeleton may cause loss of structural and functional integrity of the membrane. Several observations based on studies in vitro strongly suggest that phosphorylation may modify interactions between proteins, leading to a reduced affinity. In particular, increased phosphorylation of ␤-spectrin decreases membrane mechanical stability. In order to investigate the presence of membrane protein defects we investigated the erythrocyte membrane protein composition and phosphorylation in 22 children with leukemia at diagnosis and during the remission phase. Sixteen children had acute lymphoblastic leukemia (ALL), three had chronic myeloid leukemia (CML) and three had acute myeloid leukemia (AML). Ten patients (eight ALL and two CML) displayed elliptocytosis and poikilocytosis, an increase of spectrin dimers (41.8 ± 15.6) and an enhanced phosphorylation of ␤-spectrin (108 ± 15%) at diagnosis. These alterations disappeared during the remission phase. This is the first demonstration of a reversible erythrocyte membrane alteration in leukemia. Since the ␤-spectrin phosphate sites are located near the C-terminal region and close to the head of the ␤-chain that is involved in dimer-dimer interaction, we supposed that the ␤-chain phosphorylation has an effect upon the interactions between spectrin dimers, ie the tetramerization process. The weakening of this process should be responsible for the presence of elliptocytes and poikilocytes as reported in hereditary elliptocytosis and pyropoikilocytosis. Leukemia (2001) 15, 440-444.

show abstract

“…Schistocytosis occurs in various diseases such as metastatic cancer, malignant hypertension, DIC, and TMAs [6]. However, schistocytosis in MDS patients is rare; to the best of our knowledge, only eight cases have been reported [7][8][9][10][11][12][13]. We reviewed all previously reported cases, and the characteristics of these are summarized in Table 3.…”

Section: Discussionmentioning

confidence: 99%

A case of subacute-onset myelodysplastic syndrome with infection mimicking thrombotic thrombocytopenic purpura: a case report with literature review

et al. 2019

View full text Add to dashboard Cite

Background: Schistocytosis, which is often observed in thrombotic thrombocytopenic purpura (TTP) patients, is a rare complication in myelodysplastic syndrome (MDS) patients. Case presentation: We report on a 59-year-old man with progressive anemia and thrombocytopenia. Schistocytes were observed in his peripheral blood; consciousness disturbance, renal insufficiency, and fever were subsequently observed, fulfilling the classic pentad of TTP. He also showed massive hematuria, headache, chest pain, and abdominal pain, and brain magnetic resonance imaging scan demonstrated small infarctions. Cefmetazole was not effective, and there was no focus of infection. Disseminated intravascular coagulation (DIC) score was low at that time. We suspected TTP, and therapeutic plasma exchange was initiated. Simultaneously, antibiotic was changed to piperacillin/tazobactam. After the initiation of those treatments, his general condition improved. ADAMTS13 activity did not decrease significantly; therefore, we stopped the therapeutic plasma exchange. His D-dimer level increased and antithrombin level decreased. Heparin treatment was initiated; however, anemia and thrombocytopenia persisted. Bone marrow examinations revealed dyspoiesis in all cell lines, and a complex karyotype indicated a high risk of MDS. His TTP-like condition relapsed; again, piperacillin/tazobactam was effective. Enterococcus faecalis and Haemophilus influenzae were detected in urine culture later. Infection and/or DIC superimposed on MDS might be involved in the pathophysiology of this case. Conclusions: It should be noted that subacute-onset of MDS with infection can mimic TTP.

show abstract

Elliptocytosis and Schistocytosis in Myelodysplasia: Report of Two Cases

Cited by 32 publications

References 5 publications

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

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

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

A case of subacute-onset myelodysplastic syndrome with infection mimicking thrombotic thrombocytopenic purpura: a case report with literature review

Contact Info

Product

Resources

About