Mutant fetal hemoglobin causing cyanosis in a newborn

Pediatrics. 1989 May;83(5):734-6.

Abstract

A well but cyanotic newborn was found to have a mutant gamma-globin chain, leading to a functionally abnormal fetal hemoglobin. A single amino acid substitution was found in a site consistent with known adult M hemoglobins. This patient showed no clinical evidence of cyanosis at 5 weeks of age as gamma-chain synthesis was replaced by beta-chain synthesis. A sibling born 20 months later was also cyanotic and the same mutant hemoglobin was found.

Publication types

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

MeSH terms

  • Cyanosis / etiology*
  • Cyanosis / genetics
  • Female
  • Fetal Hemoglobin / analysis*
  • Fetal Hemoglobin / genetics*
  • Globins / analysis
  • Hemoglobin M / analysis*
  • Hemoglobin M / genetics
  • Hemoglobinopathies / complications*
  • Hemoglobins, Abnormal / analysis*
  • Humans
  • Infant, Newborn
  • Methemoglobin / genetics

Substances

  • Hemoglobins, Abnormal
  • hemoglobin M Akita
  • Globins
  • Methemoglobin
  • Fetal Hemoglobin
  • Hemoglobin M
  • hemoglobin FM Fort Ripley