Mutant fetal hemoglobin causing cyanosis in a newborn |
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| Authors: | J R Priest J Watterson R T Jones A E Faassen B E Hedlund |
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| Affiliation: | Department of Pediatric Hematology/Oncology, Children's Hospital of St Paul, MN 55102. |
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| 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. |
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