Format

Send to

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

Mutant fetal hemoglobin causing cyanosis in a newborn.

Author information

1
Department of Pediatric Hematology/Oncology, Children's Hospital of St Paul, MN 55102.

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.

PMID:
2470017
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for HighWire
Loading ...
Support Center