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

More general terms

• pyropoikilocytosis
• genetic disease of the blood/bone marrow
• hematologic disease (blood disorder, blood dyscrasia)

Database

• OMIM: https://mirror.omim.org/entry/266140