Hydrops fetalis associated with homozygosity for hemoglobin Taybe (alpha 38/39 THR deletion) in newborn triplets

Am J Hematol. 2004 Jul;76(3):263-6. doi: 10.1002/ajh.20094.

Abstract

Hemoglobin Taybe is an unstable alpha-chain hemoglobin variant caused by a deletion of a threonine residue at codon 38 or 39 of the alpha-1 globin chain. We describe preterm infant triplets born with hydrops fetalis and anemia who were found by DNA analysis to be homozygous for hemoglobin Taybe. All three infants developed intrauterine hemolytic anemia, which subsequently led to hydrops fetalis. To the best of our knowledge, this is the first description of hydrops fetalis associated with this hemoglobinopathy. We suggest that hemoglobin Taybe be considered in the differential diagnosis of hydrops fetalis and that known affected fetuses be carefully followed both antenatally and postnatally.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Hemolytic / genetics
  • Consanguinity
  • DNA / blood
  • Erythrocyte Transfusion
  • Female
  • Fetal Diseases / genetics
  • Gene Deletion
  • Globins / genetics
  • Hemoglobins, Abnormal / genetics*
  • Homozygote*
  • Humans
  • Hydrops Fetalis / blood
  • Hydrops Fetalis / genetics*
  • Infant, Newborn
  • Infant, Premature
  • Intensive Care, Neonatal
  • Male
  • Polymerase Chain Reaction
  • Pregnancy
  • Triplets*

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Taybe
  • Globins
  • DNA