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Abnormal morphology of erythroid progenitor cell

MedGen UID:
927599
•Concept ID:
C4293690
•
Cell or Molecular Dysfunction
HPO: HP:0025034

Definition

Abnormal form of the progenitor cells committed to the erythroid lineage. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal morphology of erythroid progenitor cell

Professional guidelines

PubMed

Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Proposal of criteria for dyserythropoiesis in the diagnosis of myelodysplastic syndromes.
Kawai N, Matsuda A, Jinnai I, Ichimura T, Kayano H, Okamura D, Ishikawa M, Maeda T, Hata T, Miyazaki Y, Asou N, Bessho M, Tomonaga M
Int J Hematol 2016 Feb;103(2):227-33. Epub 2015 Nov 25 doi: 10.1007/s12185-015-1916-8. PMID: 26608365
Clinical potential for noninvasive prenatal diagnosis through detection of fetal cells in maternal blood.
Purwosunu Y, Sekizawa A, Koide K, Okazaki S, Farina A, Okai T
Taiwan J Obstet Gynecol 2006 Mar;45(1):10-20. doi: 10.1016/S1028-4559(09)60184-4. PMID: 17272202

Recent clinical studies

Etiology

Uncovering perturbations in human hematopoiesis associated with healthy aging and myeloid malignancies at single-cell resolution.
Ainciburu M, Ezponda T, Berastegui N, Alfonso-Pierola A, Vilas-Zornoza A, San Martin-Uriz P, Alignani D, Lamo-Espinosa J, San-Julian M, Jiménez-Solas T, Lopez F, Muntion S, Sanchez-Guijo F, Molero A, Montoro J, Serrano G, Diaz-Mazkiaran A, Lasaga M, Gomez-Cabrero D, Diez-Campelo M, Valcarcel D, Hernaez M, Romero JP, Prosper F
Elife 2023 Jan 11;12 doi: 10.7554/eLife.79363. PMID: 36629404Free PMC Article
Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Congenital dyserythropoietic anemia.
Kamiya T, Manabe A
Int J Hematol 2010 Oct;92(3):432-8. Epub 2010 Sep 7 doi: 10.1007/s12185-010-0667-9. PMID: 20820969
Congenital dyserythropoietic anemias.
Wickramasinghe SN
Curr Opin Hematol 2000 Mar;7(2):71-8. doi: 10.1097/00062752-200003000-00001. PMID: 10698292
Anemia in alcoholics.
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828

Diagnosis

Uncovering perturbations in human hematopoiesis associated with healthy aging and myeloid malignancies at single-cell resolution.
Ainciburu M, Ezponda T, Berastegui N, Alfonso-Pierola A, Vilas-Zornoza A, San Martin-Uriz P, Alignani D, Lamo-Espinosa J, San-Julian M, Jiménez-Solas T, Lopez F, Muntion S, Sanchez-Guijo F, Molero A, Montoro J, Serrano G, Diaz-Mazkiaran A, Lasaga M, Gomez-Cabrero D, Diez-Campelo M, Valcarcel D, Hernaez M, Romero JP, Prosper F
Elife 2023 Jan 11;12 doi: 10.7554/eLife.79363. PMID: 36629404Free PMC Article
Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Abnormal erythropoiesis and the pathophysiology of chronic anemia.
Koury MJ
Blood Rev 2014 Mar;28(2):49-66. Epub 2014 Jan 23 doi: 10.1016/j.blre.2014.01.002. PMID: 24560123
How to approach chronic anemia.
Koury MJ, Rhodes M
Hematology Am Soc Hematol Educ Program 2012;2012:183-90. doi: 10.1182/asheducation-2012.1.183. PMID: 23233579
Diagnosis and classification of erythrocytoses and thrombocytoses.
Pearson TC
Baillieres Clin Haematol 1998 Dec;11(4):695-720. doi: 10.1016/s0950-3536(98)80035-8. PMID: 10640213

Therapy

Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Single-cell RNA-seq reveals a distinct transcriptome signature of aneuploid hematopoietic cells.
Zhao X, Gao S, Wu Z, Kajigaya S, Feng X, Liu Q, Townsley DM, Cooper J, Chen J, Keyvanfar K, Fernandez Ibanez MDP, Wang X, Young NS
Blood 2017 Dec 21;130(25):2762-2773. Epub 2017 Oct 13 doi: 10.1182/blood-2017-08-803353. PMID: 29030335Free PMC Article
Abnormalities of quantities and functions of linker for activations of T cells in severe aplastic anemia.
Sheng W, Liu C, Fu R, Wang H, Qu W, Ruan E, Wang G, Liu H, Wu Y, Song J, Xing L, Guan J, Li L, Liu H, Shao Z
Eur J Haematol 2014 Sep;93(3):214-23. Epub 2014 May 12 doi: 10.1111/ejh.12327. PMID: 24673455
Embryotoxicity of the artemisinin antimalarials and potential consequences for use in women in the first trimester.
Clark RL
Reprod Toxicol 2009 Nov;28(3):285-96. Epub 2009 May 15 doi: 10.1016/j.reprotox.2009.05.002. PMID: 19447170
Pathophysiology of thalassemia.
Schrier SL
Curr Opin Hematol 2002 Mar;9(2):123-6. doi: 10.1097/00062752-200203000-00007. PMID: 11844995

Prognosis

Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Congenital dyserythropoietic anemias.
Wickramasinghe SN
Curr Opin Hematol 2000 Mar;7(2):71-8. doi: 10.1097/00062752-200003000-00001. PMID: 10698292
Anemia in alcoholics.
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828
Human preleukemia.
Koeffler HP, Golde DW
Ann Intern Med 1980 Aug;93(2):347-53. doi: 10.7326/0003-4819-93-2-347. PMID: 6931507
Erythroblastemia.
Tavassoli M
West J Med 1975 Mar;122(3):194-8. PMID: 1096474Free PMC Article

Clinical prediction guides

Characterization of Hematopoiesis in Sickle Cell Disease by Prospective Isolation of Stem and Progenitor Cells.
Tolu SS, Wang K, Yan Z, Zhang S, Roberts K, Crouch AS, Sebastian G, Chaitowitz M, Fornari ED, Schwechter EM, Uehlinger J, Manwani D, Minniti CP, Bouhassira EE
Cells 2020 Sep 24;9(10) doi: 10.3390/cells9102159. PMID: 32987729Free PMC Article
Computational Methods and Correlation of Exon-skipping Events with Splicing, Transcription, and Epigenetic Factors.
Wang J, Ye Z, Huang TH, Shi H, Jin VX
Methods Mol Biol 2017;1513:163-170. doi: 10.1007/978-1-4939-6539-7_11. PMID: 27807836Free PMC Article
Pathophysiology of thalassemia.
Schrier SL
Curr Opin Hematol 2002 Mar;9(2):123-6. doi: 10.1097/00062752-200203000-00007. PMID: 11844995
Anemia in alcoholics.
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828
Newer aspects of pernicious anemia.
Kass L
CRC Crit Rev Clin Lab Sci 1978;9(1):1-47. doi: 10.3109/10408367809150914. PMID: 401364

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