[A case of hereditary pyropoikilocytosis with mild expression and delayed onset]

Ann Biol Clin (Paris). 2012 Jul-Aug;70(4):483-8. doi: 10.1684/abc.2012.0710.
[Article in French]

Abstract

We report on a case of hereditary pyropoïkilocytosis fortuitously diagnosed in a 34-year old woman issued from Benin. Laboratory tests indicated a moderate haemolytic anaemia with a marked microcytosis. Blood film examination revealed a striking anisopoikilocytosis characterized by elliptocytes, numerous red blood cells (RBC) fragments and microspherocytes. The histogram of RBC volume distribution showed two populations of RBC: a normocytic and a very microcytic population, this later corresponding to the RBC fragmentation. These features strongly suggested a membrane disorder, particularly an hereditary pyropoïkilocytosis (HPP). The thermal unstability of the cytoskeleton was demonstrated by enhanced red cell fragmentation after in vitro exposure to heat which occurs at a lower temperature as compared to normal red cells. The diagnosis of HPP was confirmed by specialized investigations (osmotic gradient ektacytometry and erythrocytic membrane proteins electrophoresis). HPP is considered as a severe form of hereditary elliptocytosis characterized by jaundice and a severe haemolytic anaemia which usually appears during the neonatal period and the childhood. Our report is intriguing because of the delayed diagnosis of HPP in a patient who presented moderate clinical manifestations.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Delayed Diagnosis
  • Elliptocytosis, Hereditary / diagnosis*
  • Female
  • Humans
  • Incidental Findings
  • Pregnancy
  • Pregnancy, Ectopic

Supplementary concepts

  • Pyropoikilocytosis, Hereditary