U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal erythroid lineage cell morphology

MedGen UID:
866550
•Concept ID:
C4020862
•
Finding
Synonym: Abnormality of cells of the erythroid lineage
 
HPO: HP:0012130

Definition

An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. [from HPO]

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
Diagnosis and management of congenital dyserythropoietic anemias.
Gambale A, Iolascon A, Andolfo I, Russo R
Expert Rev Hematol 2016 Mar;9(3):283-96. Epub 2016 Jan 6 doi: 10.1586/17474086.2016.1131608. PMID: 26653117

Recent clinical studies

Etiology

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
Unexpected macrophage-independent dyserythropoiesis in Gaucher disease.
Reihani N, Arlet JB, Dussiot M, de Villemeur TB, Belmatoug N, Rose C, Colin-Aronovicz Y, Hermine O, Le Van Kim C, Franco M
Haematologica 2016 Dec;101(12):1489-1498. Epub 2016 Jul 28 doi: 10.3324/haematol.2016.147546. PMID: 27470603Free PMC Article
Bmi1 promotes erythroid development through regulating ribosome biogenesis.
Gao R, Chen S, Kobayashi M, Yu H, Zhang Y, Wan Y, Young SK, Soltis A, Yu M, Vemula S, Fraenkel E, Cantor A, Antipin Y, Xu Y, Yoder MC, Wek RC, Ellis SR, Kapur R, Zhu X, Liu Y
Stem Cells 2015 Mar;33(3):925-38. doi: 10.1002/stem.1896. PMID: 25385494Free PMC Article
Dysplasia features of myelodysplastic syndrome in ethnically Chinese people.
Xiong B, Tang ZH, Zou P, Yue QF, Chen WX, Liu XY
Acta Haematol 2014;131(2):126-32. Epub 2013 Oct 22 doi: 10.1159/000351272. PMID: 24158033
Acute erythroid neoplastic proliferations. A biological study based on 62 patients.
Domingo-Claros A, Larriba I, Rozman M, Irriguible D, Vallespí T, Aventin A, Ayats R, Millá F, Solé F, Florensa L, Gallart M, Tuset E, Lopez C, Woessner S
Haematologica 2002 Feb;87(2):148-53. PMID: 11836165

Diagnosis

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
Diagnosis and management of congenital dyserythropoietic anemias.
Gambale A, Iolascon A, Andolfo I, Russo R
Expert Rev Hematol 2016 Mar;9(3):283-96. Epub 2016 Jan 6 doi: 10.1586/17474086.2016.1131608. PMID: 26653117
Dysplasia features of myelodysplastic syndrome in ethnically Chinese people.
Xiong B, Tang ZH, Zou P, Yue QF, Chen WX, Liu XY
Acta Haematol 2014;131(2):126-32. Epub 2013 Oct 22 doi: 10.1159/000351272. PMID: 24158033
Clinical and morphological features of paediatric myelodysplastic syndromes: a review of 34 cases.
Polychronopoulou S, Panagiotou JP, Kossiva L, Mavrou A, Anagnostou D, Haidas S
Acta Paediatr 2004 Aug;93(8):1015-23. doi: 10.1111/j.1651-2227.2004.tb02708.x. PMID: 15456186
Acute erythroid neoplastic proliferations. A biological study based on 62 patients.
Domingo-Claros A, Larriba I, Rozman M, Irriguible D, Vallespí T, Aventin A, Ayats R, Millá F, Solé F, Florensa L, Gallart M, Tuset E, Lopez C, Woessner S
Haematologica 2002 Feb;87(2):148-53. PMID: 11836165

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
KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cells.
Kohara H, Utsugisawa T, Sakamoto C, Hirose L, Ogawa Y, Ogura H, Sugawara A, Liao J, Aoki T, Iwasaki T, Asai T, Doisaki S, Okuno Y, Muramatsu H, Abe T, Kurita R, Miyamoto S, Sakuma T, Shiba M, Yamamoto T, Ohga S, Yoshida K, Ogawa S, Ito E, Kojima S, Kanno H, Tani K
Exp Hematol 2019 May;73:25-37.e8. Epub 2019 Mar 12 doi: 10.1016/j.exphem.2019.03.001. PMID: 30876823
Complex karyotype in a polycythemia vera patient with a novel SETD1B/GTF2H3 fusion gene.
Tiziana Storlazzi C, Pieri L, Paoli C, Daniele G, Lasho T, Tefferi A, Vannucchi AM
Am J Hematol 2014 Apr;89(4):438-42. doi: 10.1002/ajh.23659. PMID: 24382738
Periodic morphologic, cytogenetic and clonality evaluation after autologous peripheral blood progenitor cell transplantation in patients with lymphoproliferative malignancies.
Laurenti L, Chiusolo P, Garzia MG, Zini G, Sorà F, Piccirillo N, Piccioni P, Zollino M, Leone G, Sica S
Haematologica 2002 Jan;87(1):59-66. PMID: 11801466
Myeloid and erythroid lineage expression of haemopoietic progenitors derived from an abnormal clone in erythroleukaemia.
Suda T, Sato Y, Furukawa Y, Suda J, Eguchi M, Saito M, Miura Y
Br J Haematol 1986 Dec;64(4):647-56. doi: 10.1111/j.1365-2141.1986.tb02226.x. PMID: 3467787

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
Clinical and morphological features of paediatric myelodysplastic syndromes: a review of 34 cases.
Polychronopoulou S, Panagiotou JP, Kossiva L, Mavrou A, Anagnostou D, Haidas S
Acta Paediatr 2004 Aug;93(8):1015-23. doi: 10.1111/j.1651-2227.2004.tb02708.x. PMID: 15456186
Quantitative and qualitative analysis of the human primitive progenitor cell compartment after autologous stem cell transplantation.
Cartron G, Herault O, Benboubker L, Clement N, Bernard MC, Roingeard F, Desbois I, Colombat P, Binet C, Domenech J
J Hematother Stem Cell Res 2002 Apr;11(2):359-68. doi: 10.1089/152581602753658547. PMID: 11983107
Circulating megakaryocytes and their progenitors in early thrombocytopenia in preterm neonates.
Murray NA, Roberts IA
Pediatr Res 1996 Jul;40(1):112-9. doi: 10.1203/00006450-199607000-00020. PMID: 8798256
Primary myelodysplastic syndromes: diagnostic and prognostic significance of immunohistochemical assessment of bone marrow biopsies.
Mangi MH, Mufti GJ
Blood 1992 Jan 1;79(1):198-205. PMID: 1370203

Clinical prediction guides

Single-cell multi-omics map of human fetal blood in Down syndrome.
Marderstein AR, De Zuani M, Moeller R, Bezney J, Padhi EM, Wong S, Coorens THH, Xie Y, Xue H, Montgomery SB, Cvejic A
Nature 2024 Oct;634(8032):104-112. Epub 2024 Sep 25 doi: 10.1038/s41586-024-07946-4. PMID: 39322663Free PMC Article
Heterozygous mutation SLFN14 K208N in mice mediates species-specific differences in platelet and erythroid lineage commitment.
Stapley RJ, Smith CW, Haining EJ, Bacon A, Lax S, Pisareva VP, Pisarev AV, Watson SP, Khan AO, Morgan NV
Blood Adv 2021 Jan 26;5(2):377-390. doi: 10.1182/bloodadvances.2020002404. PMID: 33496736Free PMC Article
Bmi1 promotes erythroid development through regulating ribosome biogenesis.
Gao R, Chen S, Kobayashi M, Yu H, Zhang Y, Wan Y, Young SK, Soltis A, Yu M, Vemula S, Fraenkel E, Cantor A, Antipin Y, Xu Y, Yoder MC, Wek RC, Ellis SR, Kapur R, Zhu X, Liu Y
Stem Cells 2015 Mar;33(3):925-38. doi: 10.1002/stem.1896. PMID: 25385494Free PMC Article
Knockdown of Hspa9, a del(5q31.2) gene, results in a decrease in hematopoietic progenitors in mice.
Chen TH, Kambal A, Krysiak K, Walshauser MA, Raju G, Tibbitts JF, Walter MJ
Blood 2011 Feb 3;117(5):1530-9. Epub 2010 Dec 1 doi: 10.1182/blood-2010-06-293167. PMID: 21123823Free PMC Article
Acute erythroid neoplastic proliferations. A biological study based on 62 patients.
Domingo-Claros A, Larriba I, Rozman M, Irriguible D, Vallespí T, Aventin A, Ayats R, Millá F, Solé F, Florensa L, Gallart M, Tuset E, Lopez C, Woessner S
Haematologica 2002 Feb;87(2):148-53. PMID: 11836165

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...