Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT]

Hemoglobin. 2008;32(6):596-600. doi: 10.1080/03630260802507915.

Abstract

Neonatal cyanosis can result from a multitude of acquired and inherited causes. Cyanosis resulting from fetal M hemoglobin (Hb) variants is very rare. Only two (G)gamma variants causing methemoglobinemia and cyanosis in the newborn have been reported to date. Here we describe a novel fetal Hb variant, Hb F-Circleville [Ggamma63(E7)His-->Leu], associated with methemoglobinemia and cyanosis in the newborn. The patient's sister also had neonatal cyanosis at birth.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Base Sequence
  • Cyanosis / etiology
  • Cyanosis / genetics*
  • Female
  • Fetal Hemoglobin / genetics*
  • Globins / genetics*
  • Hemoglobins, Abnormal
  • Histidine / chemistry
  • Histidine / genetics
  • Humans
  • Infant, Newborn
  • Leucine / chemistry
  • Leucine / genetics
  • Male
  • Molecular Sequence Data
  • Mutation / genetics

Substances

  • Hemoglobins, Abnormal
  • Histidine
  • Globins
  • Fetal Hemoglobin
  • Leucine

Associated data

  • GENBANK/AY662983