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Abnormal proerythroblast morphology

MedGen UID:
927598
•Concept ID:
C4293689
•
Cell or Molecular Dysfunction
HPO: HP:0025035

Definition

Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal proerythroblast morphology

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
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
Prenatal diagnosis using fetal cells and cell-free fetal DNA in maternal blood: what is currently feasible?
Hahn S, Holzgreve W
Clin Obstet Gynecol 2002 Sep;45(3):649-56; discussion 730-2. doi: 10.1097/00003081-200209000-00008. PMID: 12370604

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
Somatic SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemia.
Foy A, McMullin MF
J Clin Pathol 2019 Nov;72(11):778-782. Epub 2019 Aug 31 doi: 10.1136/jclinpath-2019-205895. PMID: 31473630
Abnormal CD25 expression on hematopoietic cells in myelodysplastic syndromes.
Liu P, Jiang H, Che M, Fu R, Wang H, Li L, Zhang W, Tao J, Gao S, Shao Z
Leuk Res 2018 Apr;67:12-16. Epub 2017 Dec 15 doi: 10.1016/j.leukres.2017.11.010. PMID: 29407181
Fetal cells in cervical mucus and maternal blood.
Holzgreve W, Hahn S
Baillieres Best Pract Res Clin Obstet Gynaecol 2000 Aug;14(4):709-22. doi: 10.1053/beog.1999.0106. PMID: 10985940
Congenital dyserythropoietic anemias.
Wickramasinghe SN
Curr Opin Hematol 2000 Mar;7(2):71-8. doi: 10.1097/00062752-200003000-00001. PMID: 10698292

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
A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature.
Belgemen-Ozer T, Gorukmez O
J Pediatr Hematol Oncol 2020 Aug;42(6):e536-e540. doi: 10.1097/MPH.0000000000001727. PMID: 32032242
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
Prenatal cytogenetic screening.
Simpson JL
Ultrasound Obstet Gynecol 1995 Jan;5(1):3-5. doi: 10.1046/j.1469-0705.1995.05010003.x. PMID: 7531607

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
IgD κ multiple myeloma and myelodysplastic syndrome.
Laribi K, Lemaire P
Blood 2017 Apr 13;129(15):2203. doi: 10.1182/blood-2016-09-738120. PMID: 28408425
Idiopathic myelofibrosis with refractory massive ascites.
Yotsumoto M, Ishida F, Ito T, Ueno M, Kitano K, Kiyosawa K
Intern Med 2003 Jun;42(6):525-8. doi: 10.2169/internalmedicine.42.525. PMID: 12857054
Role of GATA-1 in proliferation and differentiation of definitive erythroid and megakaryocytic cells in vivo.
Takahashi S, Komeno T, Suwabe N, Yoh K, Nakajima O, Nishimura S, Kuroha T, Nagasawa T, Yamamoto M
Blood 1998 Jul 15;92(2):434-42. PMID: 9657742
Diagnostic and biological significance of sideroblastic erythropoiesis in the myelodysplastic syndromes.
Yoshida Y, Oguma S, Tohyama K, Uchino H, Ito M, Takeda Y, Yoshinaga N, Tashima M, Sawada H, Okuma M
Int J Hematol 1998 Feb;67(2):137-44. doi: 10.1016/s0925-5710(97)00112-6. PMID: 9631580

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
Therapy-related pure erythroid leukemia with hepatic infiltration and hemophagocytic syndrome.
Funakoshi Y, Matsuoka H, Yamamoto K, Yakushijin K, Inui Y, Okamura A, Takeuchi M, Yokozaki H, Minami H
Intern Med 2011;50(24):3031-5. Epub 2011 Dec 15 doi: 10.2169/internalmedicine.50.6168. PMID: 22185999
Congenital dyserythropoietic anemias.
Wickramasinghe SN
Curr Opin Hematol 2000 Mar;7(2):71-8. doi: 10.1097/00062752-200003000-00001. PMID: 10698292
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

Generation of two human induced pluripotent stem cell (hiPSC) lines derived from unrelated Marfan Syndrome patients.
Borsoi J, Morato-Marques M, de Araújo Tofoli F, Assis Pereira L, Farinha-Arcieri LE, Delgado Sarafian R, Alvarez Perez AB, Veiga Pereira L
Stem Cell Res 2021 Jul;54:102407. Epub 2021 May 25 doi: 10.1016/j.scr.2021.102407. PMID: 34062330
A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature.
Belgemen-Ozer T, Gorukmez O
J Pediatr Hematol Oncol 2020 Aug;42(6):e536-e540. doi: 10.1097/MPH.0000000000001727. PMID: 32032242
Fetal cells in cervical mucus and maternal blood.
Holzgreve W, Hahn S
Baillieres Best Pract Res Clin Obstet Gynaecol 2000 Aug;14(4):709-22. doi: 10.1053/beog.1999.0106. PMID: 10985940
A case of congenital dyserythropoietic anemia type II associated with hemochromatosis.
Tamura H, Matsumoto G, Itakura Y, Terai H, Ikebuchi K, Mitarai T, Isoda K
Intern Med 1992 Mar;31(3):380-4. doi: 10.2169/internalmedicine.31.380. PMID: 1611191
Unusual morphologic abnormalities of megaloblasts in pernicious anemia and folate deficiency.
Kass L
Am J Clin Pathol 1976 Feb;65(2):195-8. doi: 10.1093/ajcp/65.2.195. PMID: 766607

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