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

Mutant fetal hemoglobin causing cyanosis in a newborn.

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


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.

[Indexed for MEDLINE]

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