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regulator type Rh-null hemolytic anemia (Rh-deficiency syndrome)
Pathology:
- erythrocytes
a) altered ion transport system
b) abnormal membrane phospholipid organization
Genetics:
- associated with defects in RHAG
Clinical manifestations:
- chronic hemolytic anemia
Laboratory:
- complete blood count (CBC)
- peripheral blood smear:
- erythrocytes have a stomatocytosis & spherocytosis morphology
- increased erythrocyte osmotic fragility
General
hemolytic anemia
Database Correlations
OMIM 268150
References
- UniProt :accession Q02094
- OMIM :accession 268150