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hereditary pyropoikilocytosis
Genetics:
- autosomal recessive
- associated with defects in EPB41
- associated with defects in alpha-spectrin (SPTA1)
Clinical manifestations:
- hemolytic anemia
Laboratory:
- peripheral blood smear
- microspherocytosis
- poikilocytosis
- unusual thermal sensitivity of red cells
General
pyropoikilocytosis
genetic disease of the blood/bone marrow
hematologic disease (blood disorder, blood dyscrasia)
Database Correlations
OMIM 266140
References
OMIM :accession 266140