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Oval macrocytosis

MedGen UID:
1687045
Concept ID:
C5209286
Finding
HPO: HP:0032566

Definition

Enlarged, oval-shaped erythrocytes (red blood cells). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOval macrocytosis

Conditions with this feature

Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin
MedGen UID:
813565
Concept ID:
C3807235
Disease or Syndrome
The congenital dyserythropoietic anemias (CDAs) are an uncommon and heterogeneous group of conditions characterized by increased ineffective erythropoiesis and, usually, dysplastic changes in erythroblasts. Originally, 3 types of CDA were recognized and designated CDA type I (224120), type II (224100), and type III (105600). Subsequently, a number of other types were described, as reviewed by Wickramasinghe (1997). The defining features of CDA type I are autosomal recessive inheritance, macrocytes in the peripheral blood, internuclear chromatin bridges connecting some almost completely separated erythroblasts, and an abnormal ultrastructural appearance (spongy or 'swiss-cheese' appearance) of the heterochromatin in a high proportion of the erythroblasts.

Recent clinical studies

Etiology

Ai Q, Zhao L, Yin J, Jiang L, Jin Q, Hu X, Chen S
Medicine (Baltimore) 2020 Jan;99(4):e18887. doi: 10.1097/MD.0000000000018887. PMID: 31977897Free PMC Article
Farrelly SJ, O'Connor KA
BMJ Case Rep 2017 Aug 17;2017 doi: 10.1136/bcr-2016-218508. PMID: 28821482Free PMC Article
Mwanda OW, Dave P
East Afr Med J 1999 Nov;76(11):610-4. PMID: 10734519

Diagnosis

Ai Q, Zhao L, Yin J, Jiang L, Jin Q, Hu X, Chen S
Medicine (Baltimore) 2020 Jan;99(4):e18887. doi: 10.1097/MD.0000000000018887. PMID: 31977897Free PMC Article
Farrelly SJ, O'Connor KA
BMJ Case Rep 2017 Aug 17;2017 doi: 10.1136/bcr-2016-218508. PMID: 28821482Free PMC Article
Mwanda OW, Dave P
East Afr Med J 1999 Nov;76(11):610-4. PMID: 10734519
Blecher TE
Clin Lab Haematol 1988;10(4):403-8. doi: 10.1111/j.1365-2257.1988.tb01188.x. PMID: 3250788
Ward PC
Postgrad Med 1979 Feb;65(2):203-7, 209, 212-3. doi: 10.1080/00325481.1979.11715063. PMID: 368738

Therapy

Farrelly SJ, O'Connor KA
BMJ Case Rep 2017 Aug 17;2017 doi: 10.1136/bcr-2016-218508. PMID: 28821482Free PMC Article
Mwanda OW, Dave P
East Afr Med J 1999 Nov;76(11):610-4. PMID: 10734519
Blecher TE
Clin Lab Haematol 1988;10(4):403-8. doi: 10.1111/j.1365-2257.1988.tb01188.x. PMID: 3250788

Prognosis

Ward PC
Postgrad Med 1979 Feb;65(2):203-7, 209, 212-3. doi: 10.1080/00325481.1979.11715063. PMID: 368738

Clinical prediction guides

Mwanda OW, Dave P
East Afr Med J 1999 Nov;76(11):610-4. PMID: 10734519

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