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Erythrocyte inclusion bodies

MedGen UID:
1670950
•Concept ID:
C1954880
•
Cell
HPO: HP:0020080

Definition

Nuclear or cytoplasmic aggregates of substances in red blood cells. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythrocyte inclusion bodies

Conditions with this feature

Dominant beta-thalassemia
MedGen UID:
347036
•Concept ID:
C1858990
•
Disease or Syndrome
Dominantly inherited inclusion body beta-thalassemia is characterized by the presence of inclusion bodies in red blood cell precursors, moderately severe anemia, jaundice, and splenomegaly (summary by Ropero et al., 2005).
See: Condition Record
Dominant beta-thalassemia

Professional guidelines

PubMed

Screening for alpha-thalassemia. Correlation of hemoglobin H inclusion bodies with DNA-determined genotype.
Skogerboe KJ, West SF, Smith C, Terashita ST, LeCrone CN, Detter JC, Tait JF
Arch Pathol Lab Med 1992 Oct;116(10):1012-8. PMID: 1329692

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