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Circulating nucleated red blood cells

MedGen UID:
1785393
Concept ID:
C5539477
Finding
HPO: HP:0033281

Definition

The presence of nucleated red blood cells in the peripheral blood circulation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCirculating nucleated red blood cells

Conditions with this feature

Congenital dyserythropoietic anemia type 4
MedGen UID:
462276
Concept ID:
C3150926
Disease or Syndrome
Congenital dyserythropoietic anemia type IV (CDAN4) is an autosomal dominant red blood cell disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDAN4 also have increased levels of fetal hemoglobin (summary by Arnaud et al., 2010). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see CDAN1 (224120).

Professional guidelines

PubMed

Zhang H, Yang Y, Li X, Shi Y, Hu B, An Y, Zhu Z, Hong G, Yang CJ
Lab Chip 2018 Sep 11;18(18):2749-2756. doi: 10.1039/c8lc00650d. PMID: 30123896

Recent clinical studies

Etiology

Piggott KD, Norlin C, Laviolette C, Turner J, Lewis L, Soliman A, Hebert D, Pettitt T
Perfusion 2023 Mar;38(2):299-304. Epub 2021 Oct 12 doi: 10.1177/02676591211050607. PMID: 34636269
Cirovic A, Cirovic A
Leuk Res 2022 Jan;112:106755. Epub 2021 Nov 22 doi: 10.1016/j.leukres.2021.106755. PMID: 34844140
Pedersen SJV, Chok R, McKillop S, Rojas-Vasquez M, Duff JP, Szkotak A, Bruce AA
J Pediatr Hematol Oncol 2022 Apr 1;44(3):79-83. doi: 10.1097/MPH.0000000000002294. PMID: 34486569
Piggott KD, Maqsood S, Warner CL, Pettitt T, Yang S, Turner J, Soliman A, Norlin C, Lewis L, Bhatia A
Cardiol Young 2022 Jul;32(7):1048-1052. Epub 2021 Aug 31 doi: 10.1017/S1047951121003577. PMID: 34462029
Lombardi G, Colombini A, Lanteri P, Banfi G
Adv Clin Chem 2013;59:125-53. doi: 10.1016/b978-0-12-405211-6.00005-x. PMID: 23461135

Diagnosis

Pikora K, Krętowska-Grunwald A, Krawczuk-Rybak M, Sawicka-Żukowska M
Cells 2023 Jul 9;12(14) doi: 10.3390/cells12141817. PMID: 37508482Free PMC Article
Li X, Wang T, Xie T, Dai J, Zhang Y, Ling N, Guo J, Li C, Sun X, Zhang X, Peng Y, Wang H, Peng T, Ye M, Tan W
Anal Chem 2023 Mar 28;95(12):5419-5427. Epub 2023 Mar 15 doi: 10.1021/acs.analchem.3c00115. PMID: 36920371
Piggott KD, Maqsood S, Warner CL, Pettitt T, Yang S, Turner J, Soliman A, Norlin C, Lewis L, Bhatia A
Cardiol Young 2022 Jul;32(7):1048-1052. Epub 2021 Aug 31 doi: 10.1017/S1047951121003577. PMID: 34462029
Poz D, De Falco E, Pisano C, Madonna R, Ferdinandy P, Balistreri CR
Rejuvenation Res 2019 Apr;22(2):146-162. Epub 2018 Oct 13 doi: 10.1089/rej.2018.2094. PMID: 30132390
Beaudet AL
Am J Med Genet C Semin Med Genet 2016 Jun;172(2):123-7. Epub 2016 May 2 doi: 10.1002/ajmg.c.31487. PMID: 27133782

Therapy

Di Girolamo R, Khalil A, Alameddine S, D'Angelo E, Galliani C, Matarrelli B, Buca D, Liberati M, Rizzo G, D'Antonio F
Am J Obstet Gynecol MFM 2021 Nov;3(6):100468. Epub 2021 Aug 21 doi: 10.1016/j.ajogmf.2021.100468. PMID: 34425296Free PMC Article
Gomes C, Boareto AC, Dalsenter PR
Reprod Toxicol 2016 Oct;65:194-203. Epub 2016 Aug 6 doi: 10.1016/j.reprotox.2016.08.003. PMID: 27506918
Christensen RD, Lambert DK, Richards DS
J Perinatol 2014 Feb;34(2):116-9. Epub 2013 Sep 12 doi: 10.1038/jp.2013.113. PMID: 24030675
Cavill I
Best Pract Res Clin Haematol 2002 Jun;15(2):399-409. doi: 10.1016/s1521-6926(02)90004-6. PMID: 12401314
Yeruchimovich M, Dollberg S, Green DW, Mimouni FB
Obstet Gynecol 1999 Mar;93(3):403-6. doi: 10.1016/s0029-7844(98)00442-6. PMID: 10074988

Prognosis

Pikora K, Krętowska-Grunwald A, Krawczuk-Rybak M, Sawicka-Żukowska M
Cells 2023 Jul 9;12(14) doi: 10.3390/cells12141817. PMID: 37508482Free PMC Article
Pedersen SJV, Chok R, McKillop S, Rojas-Vasquez M, Duff JP, Szkotak A, Bruce AA
J Pediatr Hematol Oncol 2022 Apr 1;44(3):79-83. doi: 10.1097/MPH.0000000000002294. PMID: 34486569
Monteiro Júnior JGM, de Oliveira Cipriano Torres D, Filho DCS
Curr Cardiol Rev 2019;15(4):274-282. doi: 10.2174/1573403X15666190225123544. PMID: 30799790Free PMC Article
Poz D, De Falco E, Pisano C, Madonna R, Ferdinandy P, Balistreri CR
Rejuvenation Res 2019 Apr;22(2):146-162. Epub 2018 Oct 13 doi: 10.1089/rej.2018.2094. PMID: 30132390
Han Y, Liu Q, Hou J, Gu Y, Zhang Y, Chen Z, Fan J, Zhou W, Qiu S, Zhang Y, Dong T, Li N, Jiang Z, Zhu H, Zhang Q, Ma Y, Zhang L, Wang Q, Yu Y, Li N, Cao X
Cell 2018 Apr 19;173(3):634-648.e12. Epub 2018 Mar 29 doi: 10.1016/j.cell.2018.02.061. PMID: 29606356

Clinical prediction guides

Pikora K, Krętowska-Grunwald A, Krawczuk-Rybak M, Sawicka-Żukowska M
Cells 2023 Jul 9;12(14) doi: 10.3390/cells12141817. PMID: 37508482Free PMC Article
Pedersen SJV, Chok R, McKillop S, Rojas-Vasquez M, Duff JP, Szkotak A, Bruce AA
J Pediatr Hematol Oncol 2022 Apr 1;44(3):79-83. doi: 10.1097/MPH.0000000000002294. PMID: 34486569
Yamane T
Int J Mol Sci 2020 Dec 8;21(24) doi: 10.3390/ijms21249346. PMID: 33302450Free PMC Article
Monteiro Júnior JGM, de Oliveira Cipriano Torres D, Filho DCS
Curr Cardiol Rev 2019;15(4):274-282. doi: 10.2174/1573403X15666190225123544. PMID: 30799790Free PMC Article
Poz D, De Falco E, Pisano C, Madonna R, Ferdinandy P, Balistreri CR
Rejuvenation Res 2019 Apr;22(2):146-162. Epub 2018 Oct 13 doi: 10.1089/rej.2018.2094. PMID: 30132390

Recent systematic reviews

Di Girolamo R, Khalil A, Alameddine S, D'Angelo E, Galliani C, Matarrelli B, Buca D, Liberati M, Rizzo G, D'Antonio F
Am J Obstet Gynecol MFM 2021 Nov;3(6):100468. Epub 2021 Aug 21 doi: 10.1016/j.ajogmf.2021.100468. PMID: 34425296Free PMC Article

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