PEDIATRICS Vol. 83 No. 5 May 1989, pp. 734-736
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Mutant Fetal Hemoglobin Causing Cyanosis in a Newborn

John R. Priest MD1, Jan Watterson BA1, Richard T. Jones MD, PhD1, Anne E. Faassen BA1, and Bo E. Hedlund PhD1

1 The Department of Pediatric Hematology/Oncology, Children's Hospital of St Paul, St Paul; Department of Biochemistry, Oregon Health Sciences University, Portland, Oregon; and Dight Laboratories, University of Minnesota, Minneapolis

A well but cyanotic newborn was found to have a mutant ggr-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 ggr-chain synthesis was replaced by beta-chain synthesis. A sibling born 20 months later was also cyanotic and the same mutant hemoglobin was found.

Key Words: cyanosis • methemoglobin • M hemoglobin • mutant hemoglobin

Submitted on April 4, 1988
Accepted on July 6, 1988