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Abnormal erythrocyte morphology

MedGen UID:
488883
Concept ID:
C0391870
Finding
Synonyms: Abnormal erythrocyte; Abnormality of erythrocytes; Abnormality of erythroid lineage cell; Abnormality of red blood cells; Erythrocyte abnormality
SNOMED CT: Erythrocyte abnormality (12222001); Abnormal erythrocyte (12222001); Abnormality of red blood cells (12222001)
 
HPO: HP:0001877

Definition

Any structural abnormality of erythrocytes (red-blood cells). [from HPO]

Term Hierarchy

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

Conditions with this feature

Polyagglutinable erythrocyte syndrome
MedGen UID:
82896
Concept ID:
C0272137
Disease or Syndrome
Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000). Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1; 610555), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).
Autosomal dominant sideroblastic anemia
MedGen UID:
902781
Concept ID:
C4225428
Disease or Syndrome
Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia (van Waveren Hogervorst et al., 1987; Schmitz-Abe et al., 2015). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751).

Professional guidelines

PubMed

Manciu S, Matei E, Trandafir B
Chirurgia (Bucur) 2017 Mar-Apr;112(2):110-116. doi: 10.21614/chirurgia.112.2.110. PMID: 28463670
Pecker LH, Schaefer BA, Luchtman-Jones L
Br J Haematol 2017 Feb;176(4):515-526. Epub 2016 Dec 16 doi: 10.1111/bjh.14444. PMID: 27982424Free PMC Article
Zini G, d'Onofrio G, Briggs C, Erber W, Jou JM, Lee SH, McFadden S, Vives-Corrons JL, Yutaka N, Lesesve JF; International Council for Standardization in Haematology (ICSH)
Int J Lab Hematol 2012 Apr;34(2):107-16. Epub 2011 Nov 15 doi: 10.1111/j.1751-553X.2011.01380.x. PMID: 22081912

Recent clinical studies

Etiology

Gyawali P, Richards RS, Bwititi PT, Nwose EU
Blood Cells Mol Dis 2015 Apr;54(4):360-3. Epub 2015 Jan 17 doi: 10.1016/j.bcmd.2015.01.005. PMID: 25616368
Bailey LB
J Nutr 1990 Nov;120 Suppl 11:1508-11. doi: 10.1093/jn/120.suppl_11.1508. PMID: 2243297
Dauphinee D, Langley GR
Can Med Assoc J 1967 Feb 11;96(6):309-11. PMID: 6017542Free PMC Article

Diagnosis

Gyawali P, Richards RS, Bwititi PT, Nwose EU
Blood Cells Mol Dis 2015 Apr;54(4):360-3. Epub 2015 Jan 17 doi: 10.1016/j.bcmd.2015.01.005. PMID: 25616368

Therapy

Russell JE, Liebhaber SA
Blood 1998 Nov 1;92(9):3057-63. PMID: 9787139
Bailey LB
J Nutr 1990 Nov;120 Suppl 11:1508-11. doi: 10.1093/jn/120.suppl_11.1508. PMID: 2243297

Prognosis

Kihm AJ, Kong Y, Hong W, Russell JE, Rouda S, Adachi K, Simon MC, Blobel GA, Weiss MJ
Nature 2002 Jun 13;417(6890):758-63. doi: 10.1038/nature00803. PMID: 12066189

Clinical prediction guides

Park SO, Wamsley HL, Bae K, Hu Z, Li X, Choe SW, Slayton WB, Oh SP, Wagner KU, Sayeski PP
PLoS One 2013;8(3):e59675. Epub 2013 Mar 27 doi: 10.1371/journal.pone.0059675. PMID: 23544085Free PMC Article
Kihm AJ, Kong Y, Hong W, Russell JE, Rouda S, Adachi K, Simon MC, Blobel GA, Weiss MJ
Nature 2002 Jun 13;417(6890):758-63. doi: 10.1038/nature00803. PMID: 12066189
Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP
Nat Genet 2001 Jun;28(2):119-20. doi: 10.1038/88821. PMID: 11381253

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