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Multinucleated erythroblast

MedGen UID:
412762
Concept ID:
C2749670
Finding
Synonyms: Multinuclear erythroblasts; Multinucleated erythroblasts
 
HPO: HP:0034278

Definition

Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultinucleated erythroblast

Conditions with this feature

Congenital dyserythropoietic anemia type type 1B
MedGen UID:
816515
Concept ID:
C3810185
Disease or Syndrome
Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate-to-severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth restriction. Some individuals present in childhood or adulthood. After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly. Secondary hemochromatosis develops with age as a result of increased iron absorption even in those who are not transfused. Distal limb anomalies occur in 4%-14% of affected individuals.

Professional guidelines

PubMed

Risinger M, Emberesh M, Kalfa TA
Hematol Oncol Clin North Am 2019 Jun;33(3):373-392. Epub 2019 Mar 29 doi: 10.1016/j.hoc.2019.01.002. PMID: 31030808

Recent clinical studies

Etiology

Go EM, Oh JH, Park JH, Lee SY, Lee NK
Exp Mol Med 2020 Apr;52(4):691-701. Epub 2020 Apr 27 doi: 10.1038/s12276-020-0427-8. PMID: 32341419Free PMC Article
Risinger M, Emberesh M, Kalfa TA
Hematol Oncol Clin North Am 2019 Jun;33(3):373-392. Epub 2019 Mar 29 doi: 10.1016/j.hoc.2019.01.002. PMID: 31030808
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
Sandström H, Wahlin A
Haematologica 2000 Jul;85(7):753-7. PMID: 10897128
Wickramasinghe SN, Wahlin A, Anstee D, Parsons SF, Stopps G, Bergstrom I, Eriksson M, Sandstrom H, Shiels S
Eur J Haematol 1993 Apr;50(4):213-21. doi: 10.1111/j.1600-0609.1993.tb01923.x. PMID: 8500603

Diagnosis

Risinger M, Emberesh M, Kalfa TA
Hematol Oncol Clin North Am 2019 Jun;33(3):373-392. Epub 2019 Mar 29 doi: 10.1016/j.hoc.2019.01.002. PMID: 31030808
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
Sandström H, Wahlin A
Haematologica 2000 Jul;85(7):753-7. PMID: 10897128
Iolascon A, D'Agostaro G, Perrotta S, Izzo P, Tavano R, Miraglia del Giudice B
Haematologica 1996 Nov-Dec;81(6):543-59. PMID: 9009444
Benjamin JT, Rosse WF, Daldorf FG, McMillan CW
J Pediatr 1975 Aug;87(2):210-6. doi: 10.1016/s0022-3476(75)80581-6. PMID: 1097617

Therapy

Brenton-Gorius J, Flandrin G, Daniel MT, Chevalier J, Lebeau M, Sanel FT
Virchows Arch B Cell Pathol 1975 Jul 18;18(3):165-80. doi: 10.1007/BF02889245. PMID: 808026

Prognosis

Liljeholm M, Irvine AF, Vikberg AL, Norberg A, Month S, Sandström H, Wahlin A, Mishima M, Golovleva I
Blood 2013 Jun 6;121(23):4791-9. Epub 2013 Apr 9 doi: 10.1182/blood-2012-10-461392. PMID: 23570799
Sigler E, Shaft D, Shtalrid M, Shvidel L, Berrebi A, Resnitzky P
Am J Hematol 2002 May;70(1):72-6. doi: 10.1002/ajh.10086. PMID: 11994986
Henderson DW, Raven JL, Pollard JA, Walters MN
Pathology 1976 Oct;8(4):329-41. doi: 10.3109/00313027609101496. PMID: 1018951
Bright M, Cobb J, Evans B, Parry TE
J Clin Pathol 1972 Jul;25(7):561-9. doi: 10.1136/jcp.25.7.561. PMID: 5070252Free PMC Article

Clinical prediction guides

Satchwell TJ, Pellegrin S, Bianchi P, Hawley BR, Gampel A, Mordue KE, Budnik A, Fermo E, Barcellini W, Stephens DJ, van den Akker E, Toye AM
Haematologica 2013 Nov;98(11):1788-96. Epub 2013 Aug 9 doi: 10.3324/haematol.2013.085522. PMID: 23935019Free PMC Article
Sandström H, Wahlin A, Eriksson M, Holmgren G, Lind L, Sandgren O
Br J Haematol 1997 Sep;98(4):845-9. doi: 10.1046/j.1365-2141.1997.2883105.x. PMID: 9326176
Wickramasinghe SN, Wahlin A, Anstee D, Parsons SF, Stopps G, Bergstrom I, Eriksson M, Sandstrom H, Shiels S
Eur J Haematol 1993 Apr;50(4):213-21. doi: 10.1111/j.1600-0609.1993.tb01923.x. PMID: 8500603
Barton JC, Parmley RT, Carroll AJ, Huang ST, Goodnough LT, Findley HW Jr, Ragab AH
J Submicrosc Cytol 1987 Apr;19(2):355-64. PMID: 3599130
Brenton-Gorius J, Flandrin G, Daniel MT, Chevalier J, Lebeau M, Sanel FT
Virchows Arch B Cell Pathol 1975 Jul 18;18(3):165-80. doi: 10.1007/BF02889245. PMID: 808026

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