Mutant fetal hemoglobin causing cyanosis in a newborn.
Article Details
- CitationCopy to clipboard
Priest JR, Watterson J, Jones RT, Faassen AE, Hedlund BE
Mutant fetal hemoglobin causing cyanosis in a newborn.
Pediatrics. 1989 May;83(5):734-6.
- PubMed ID
- 2470017 [ View in PubMed]
- 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.