Jun

14

2022

What is the cause of hereditary pyropoikilocytosis (HPP)?

By William Aird

A

What is the cause of hereditary pyropoikilocytosis (HPP)?

Autosomal recessive mutations in one of the following genes:

  • SPTA1 (encoding alpha-spectrin)
  • SPTB (encoding beta-spectrin)
  • EPB41 (encoding protein 4.1)
British Committee Standards in Haematology (BCSH) expert guideline on diagnosis of hereditary spherocytosis can be found in Br J Haematol 2012 Jan;156(1):37

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