Hereditary Pyropoikilocytosis

From Anvita Health Wiki

Contents 1 Genetics 2 Clinical-manifestations 3 Laboratory 4 More General Terms 5 Internet Database 6 References

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)

Internet Database

OMIM: 266140

References

OMIM [1]

hereditary pyropoikilocytosis