Severe hemolysis and red cell fragmentation caused by the combination of a spectrin mutation with a thrombotic microangiopathy

Petr Jarolim, Jiri Palek, Theresa L. Coetzer, Jack Lawler, Enrique Velez‐Garcia, Jean Fradera, Agnes Charles, Harry S. Jacob, Joel L. Moake

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

Two patients are described who presented with severe hemolysis and erythrocyte fragmentation. One patient had renal allograft rejection and disseminated intravascular coagulation, and the other had thrombotic thrombocytopenia purpura. The severity of hemolysis and the red cell abnormalities were considerably more profound than usually seen in patients with thrombotic microangiopathies. After evaluation of blood smears prepared before the onset of the disease and biochemical characterization of proteins of the red blood cell skeleton, a mutation of the skeletal protein spectrin, designated Sp α1/65, was identified. In the heterozygous form, this mutation manifests as mild, often asymptomatic, hereditary elliptocytosis. We conclude that in these two patients with thrombotic microangiopathy, the intrinsic red cell membrane instability resulting from the underlying skeletal defect aggravated the mechanical red cell fragmentation, producing morphological features similar to the severe hemolytic form of hereditary elliptocytosis or hereditary pyropoikilocytosis.

Original languageEnglish (US)
Pages (from-to)50-56
Number of pages7
JournalAmerican Journal of Hematology
Volume32
Issue number1
DOIs
StatePublished - Sep 1989

Keywords

  • hereditary elliptocytosis
  • hereditary pyropoikilocytosis
  • renal allograft rejection
  • spectrin α
  • thrombotic thrombocytopenia purpura

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