Sub-lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies

Prenat Diagn. 2003 May;23(5):380-4. doi: 10.1002/pd.598.

Abstract

Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia mapping to 16q23-q24. We showed recently that it is part of a pleiotropic syndrome likely to display pseudohyperkalemia and/or different forms of fetal and placental fluid collections. Here, we report a woman with DHS. She had two consecutive pregnancies associated with severe fetal hydrops. Hydrops would probably have been lethal in the absence of appropriate removal of ascites and excess amniotic fluid. In utero exchange transfusion, performed once, was useless, because anemia was not pronounced enough to be the cause of the hydrops. In both newborns, ascites resolved within a week following birth and never recurred. The association of hydrops and hemolytic anemia suggests the possibility of DHS. Symptomatic treatment of the hydrops assists survival until spontaneous resorption occurs.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital* / genetics
  • Anemia, Hemolytic, Congenital* / pathology
  • Anemia, Hemolytic, Congenital* / therapy
  • Ascites / genetics
  • Ascites / pathology*
  • Ascites / therapy
  • Erythrocyte Deformability
  • Erythrocyte Indices
  • Erythrocytes, Abnormal / pathology*
  • Female
  • Fetal Diseases* / blood
  • Fetal Diseases* / diagnostic imaging
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Male
  • Microsatellite Repeats
  • Osmosis
  • Pedigree
  • Pregnancy / blood
  • Pregnancy Complications, Hematologic*
  • Ultrasonography, Prenatal