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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
Ringed sideroblasts in β-thalassemia.
Cattivelli K, Campagna DR, Schmitz-Abe K, Heeney MM, Yaish HM, Caruso Brown AE, Kearney S, Walkovich K, Markianos K, Fleming MD, Neufeld EJ
Pediatr Blood Cancer 2017 May;64(5) Epub 2016 Nov 3 doi: 10.1002/pbc.26324. PMID: 27808451Free PMC Article
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

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
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
The role of rHuEpo in low-risk myelodysplastic syndrome patients.
Rigolin GM, Castoldi G
Leuk Lymphoma 2005 Jun;46(6):823-31. doi: 10.1080/10428190500080348. PMID: 16019526
Pathophysiology of thalassemia.
Schrier SL
Curr Opin Hematol 2002 Mar;9(2):123-6. doi: 10.1097/00062752-200203000-00007. PMID: 11844995
Sickling of nucleated erythroid precursors from patients with sickle cell anemia.
Hasegawa S, Rodgers GP, Dwyer N, Noguchi CT, Blanchette-Mackie EJ, Uyesaka N, Schechter AN, Fibach E
Exp Hematol 1998 Apr;26(4):314-9. PMID: 9546314

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
Chronic myelogenous leukemia.
Grignani F
Crit Rev Oncol Hematol 1985;4(1):31-66. PMID: 3902263
Erythroblastemia.
Tavassoli M
West J Med 1975 Mar;122(3):194-8. PMID: 1096474Free PMC Article

Clinical prediction guides

HSPA9/mortalin inhibition disrupts erythroid maturation through a TP53-dependent mechanism in human CD34+ hematopoietic progenitor cells.
Butler C, Dunmire M, Choi J, Szalai G, Johnson A, Lei W, Chen X, Liu L, Li W, Walter MJ, Liu T
Cell Stress Chaperones 2024 Apr;29(2):300-311. Epub 2024 Mar 19 doi: 10.1016/j.cstres.2024.03.006. PMID: 38508444Free 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
Sickling of nucleated erythroid precursors from patients with sickle cell anemia.
Hasegawa S, Rodgers GP, Dwyer N, Noguchi CT, Blanchette-Mackie EJ, Uyesaka N, Schechter AN, Fibach E
Exp Hematol 1998 Apr;26(4):314-9. PMID: 9546314
Anemia in alcoholics.
Savage D, Lindenbaum J
Medicine (Baltimore) 1986 Sep;65(5):322-38. doi: 10.1097/00005792-198609000-00005. PMID: 3747828

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