Pyridoxine responsive hereditary sideroblastic erythropoiesis and iron overload: two microcytic subpopulations in the affected male, one normocytic and one microcytic subpopulation in the obligate female carrier

Am J Hematol. 1993 Apr;42(4):400-1. doi: 10.1002/ajh.2830420415.

Abstract

Mild hepatic iron overload has been demonstrated by magnetic susceptibility measurements in a 22-year-old man with hereditary sideroblastic erythropoiesis despite hemoglobin levels in the normal range and a normal erythropoietin level. His grandfather's sideroblastic anemia has been found to be responsive to pyridoxine; his mother's hemoglobin has persisted in the normal range but red cell volume distribution analysis demonstrated two subpopulations; 30% with estimated geometric mean of 68 fl and 70% an estimated mean of 93 fl. Red cell distribution analysis of the grandson demonstrated two microcytic subpopulations; 46% with an estimated geometric mean of 45 fl and 54% an estimated mean of 70 fl. A therapeutic regimen is outlined to reduce to normal his iron stores and to prevent the future development of excessive iron overload.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sideroblastic / blood*
  • Anemia, Sideroblastic / drug therapy*
  • Anemia, Sideroblastic / genetics
  • Erythrocytes / pathology*
  • Erythropoiesis / drug effects*
  • Female
  • Heterozygote
  • Humans
  • Iron / metabolism*
  • Male
  • Pyridoxine / therapeutic use*
  • Reference Values

Substances

  • Iron
  • Pyridoxine