Hb Aztec or alpha 2 76 (EF5) Met----Thr beta 2 detection of a silent mutant by high performance liquid chromatography.
High performance liquid chromatography has detected 14 abnormal hematological states in 600 randomly selected samples of blood. Two of these are silent mutations which are not apparent from chromatographic or electrophoretic examination. One of these has the substitution alpha 76 (EF5) Met----Thr and has been named Hb Aztec. The variant was first detected in a 9-day-old baby girl who had inherited it from her mother. This abnormal hemoglobin has no obviously deleterious effect on hematological status or health.
D000293:Adolescent; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D046911:Macromolecular Substances; D008715:Methionine; D009154:Mutation; D010446:Peptide Fragments / Q000032:analysis; D013912:Threonine; D014357:Trypsin
D006455:Hemoglobins, Abnormal; D046911:Macromolecular Substances; D010446:Peptide Fragments; C049100:hemoglobin Aztec; D013912:Threonine; D008715:Methionine; D014357:Trypsin