Hereditary xerocytosis revisited

Am J Hematol. 2014 Dec;89(12):1142-6. doi: 10.1002/ajh.23799. Epub 2014 Jul 21.

Abstract

A 21 year old male student presented in 1980 as an Olympic athlete with a 12 year history of jaundice, pallor, and darkened urine induced by the atraumatic exercise of swimming (1). Physical examination at that time was remarkable only for moderate scleral icterus without hepatosplenomegaly. Hematological examination revealed moderate macrocytosis (MCV 102 fL) without anemia (Hct 50%, Hb 17 g/dL, 9% reticulocytes). The peripheral blood smear showed occasional target cells. Red cell osmotic fragility was decreased. Red cell Na content was increased and K content was decreased, with reduced total monovalent ion content. Passive red cell permeability of both Na and K were increased. A supervised 2.5 hr swimming workout increased free plasma Hb from <5 to 45 mg/dL and decreased serum haptoglobin from 25 to 6 mg/dL. The post-exercise urine sediment was remarkable for hemosiderin-laden tubular epithelial cells, without frank hemoglobinuria. The circulating 15 day erythrocyte half-life measured after 6 days without exercise was further shortened to 12 days after resumption of twice-per-day swimming workouts for 1 week. The patient’s red cells were hypersensitive to in vitro shear stress applied by cone-plate viscometer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Adult Children
  • Anemia, Hemolytic, Congenital / diagnosis*
  • Anemia, Hemolytic, Congenital / genetics*
  • Anemia, Hemolytic, Congenital / metabolism
  • Anemia, Hemolytic, Congenital / pathology
  • Erythrocytes / metabolism
  • Erythrocytes / pathology
  • Glucuronosyltransferase / genetics*
  • Glucuronosyltransferase / metabolism
  • Hemochromatosis Protein
  • Hepatocytes / metabolism
  • Hepatocytes / pathology
  • Heterozygote
  • Histocompatibility Antigens Class I / genetics*
  • Histocompatibility Antigens Class I / metabolism
  • Humans
  • Hydrops Fetalis / diagnosis*
  • Hydrops Fetalis / genetics*
  • Hydrops Fetalis / metabolism
  • Hydrops Fetalis / pathology
  • Ion Channels / genetics*
  • Ion Channels / metabolism
  • Liver / metabolism
  • Liver / pathology
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Middle Aged
  • Mutation*
  • Osmotic Fragility
  • Pedigree

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Ion Channels
  • Membrane Proteins
  • PIEZO1 protein, human
  • UGT1A1 enzyme
  • Glucuronosyltransferase

Supplementary concepts

  • Xerocytosis, hereditary