Mutant fetal hemoglobin causing cyanosis in a newborn.
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.
Priest
J R
JR
Department of Pediatric Hematology/Oncology, Children's Hospital of St Paul, MN 55102.
Watterson
J
J
Jones
R T
RT
Faassen
A E
AE
Hedlund
B E
BE
D003490:Cyanosis / Q000209:etiology* / Q000235:genetics; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis* / Q000235:genetics*; D005914:Globins / Q000032:analysis; D006449:Hemoglobin M / Q000032:analysis* / Q000235:genetics; D006453:Hemoglobinopathies / Q000150:complications*; D006455:Hemoglobins, Abnormal / Q000032:analysis*; D006801:Humans; D007231:Infant, Newborn; D008706:Methemoglobin / Q000235:genetics
D006455:Hemoglobins, Abnormal; C056016:hemoglobin M Akita; D005914:Globins; D008706:Methemoglobin; D005319:Fetal Hemoglobin; D006449:Hemoglobin M; C059479:hemoglobin FM Fort Ripley