CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis

Singleton, Belinda K.; Ahmed, Momin; Green, C. A.; Heimpel, Hermann; Wozniak, Matthew A.; Ranjha, L.; Seeney, Frances; Bomford, Adrian; Mehta, Pramod P.; Guest, A. R.; Mushens, Rosey; King, May‐Jean

doi:10.1002/cyto.b.21488

Cited by 11 publications

(7 citation statements)

References 44 publications

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“…The immunoprecipitation of homozygous erythroblast lysates also showed a strong association between band 3 and HSP70, otherwise known as GRP78, an ER-associated heat shock protein (Figure 9). Another protein that has been suggested as a marker for CDAII is CD44 (Singleton et al, 2018) and we found that CD44 protein is high in SAO RBCs. One difference between SAO and CDAII is the apparent molecular weight of the band 3 protein when separated by SDS-PAGE.…”

Section: Similarities Between Dyserythropoiesis In Sao and Cdaii Cellssupporting

confidence: 55%

Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation

et al. 2020

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Section: Similarities Between Dyserythropoiesis In Sao and Cdaii Cellssupporting

confidence: 55%

Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation

et al. 2020

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“…For instance, frequent misdiagnosis between CDAI and hereditary stomatocytosis is well known, 69 as well as between CDAII and hereditary spherocytosis, 3 although some screening markers have been proposed. 17,70 Recently, ektacytometry has been used to differentiate between CDAII and hereditary spherocytosis, although some of the values between these conditions show overlap. 71 Differential diagnosis based on a label-free optical marker has also been reported.…”

Section: Diagnostic Workflow Of Cdasmentioning

confidence: 99%

Congenital dyserythropoietic anemias

Iolascon

Andolfo

Russo

2020

Blood

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Congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of inherited anemias that affect the normal differentiation-proliferation pathways of the erythroid lineage. They belong to the wide group of ineffective erythropoiesis conditions that mainly result in monolinear cytopenia. CDAs are classified into the three major types (I, II, III), plus the transcription-factor-related CDAs, and the CDA variants, on the basis of the distinctive morphological, clinical, and genetic features. Next-generation sequencing has revolutionized the field of diagnosis of and research into CDAs, with reduced time to diagnosis, and ameliorated differential diagnosis in terms of identification of new causative/modifier genes and polygenic conditions. The main improvements regarding CDAs have been in the study of iron metabolism in CDAII. The erythroblast-derived hormone erythroferrone specifically inhibits hepcidin production, and its role in the mediation of hepatic iron overload has been dissected out. We discuss here the most recent advances in this field regarding the molecular genetics and pathogenic mechanisms of CDAs, through an analysis of the clinical and molecular classifications, and the complications and clinical management of patients. We summarize also the main cellular and animal models developed to date, and the possible future therapies.

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“…Total RNA was extracted from transduced BEL-A2 cells stored in RNAlater, cDNA was prepared and quantitative real-time PCR (qPCR) was used to quantify expression of EMP3 and CD44H RNA, as described in Singleton et al 30 with some modifications. Target gene expression was normalised to the geometric mean of two reference genes and compared with a calibrator sample prepared from untransduced BEL-A2 cells.…”

Section: Methodsmentioning

confidence: 99%

Disruption of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype

et al. 2020

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The clinically important MAM blood group antigen is present on haematopoietic cells of all humans except rare MAM-negative individuals. Its molecular basis is unknown. By whole-exome sequencing we identify EMP3 , encoding epithelial membrane protein 3 (EMP3), as a candidate gene, then demonstrate inactivating mutations in ten known MAM-negative individuals. We show that EMP3, a purported tumour suppressor in various solid tumours, is expressed in erythroid cells. Disruption of EMP3 by CRISPR/Cas9 gene editing in an immortalised human erythroid cell line (BEL-A2) abolishes MAM expression. We find EMP3 to associate with, and stabilise, CD44 in the plasma membrane. Furthermore, cultured erythroid progenitor cells from MAM-negative individuals show markedly increased proliferation and higher reticulocyte yields, suggesting an important regulatory role for EMP3 in erythropoiesis and control of cell production. Our data establish MAM as a new blood group system and demonstrate an interaction of EMP3 with the cell surface signalling molecule CD44.

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CD44 as a Potential Screening Marker for Preliminary Differentiation Between Congenital Dyserythropoietic Anemia Type II and Hereditary Spherocytosis

Cited by 11 publications

References 44 publications

Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation

Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation

Congenital dyserythropoietic anemias

Disruption of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype

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