Hb Aztec or α⁷⁶₂ Met → Thr_β2 Detection of a Silent Mutant by High Performance Liquid Chromatography

Joan B. Shelton Division of Chemistry and Chemical Engineering, California Institute of Technology Pasadena, CA, 91125

J. Roger Shelton Division of Chemistry and Chemical Engineering, California Institute of Technology Pasadena, CA, 91125

W. A. Schroeder Division of Chemistry and Chemical Engineering, California Institute of Technology Pasadena, CA, 91125

Darleen R. Powars Department of Pediatrics Division of Hematology/Oncology, University of Southern California School of Medicine Los Angeles, CA, 90033

Abstract

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 α76 (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 or hematological status or health.

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Hb Aztec or α⁷⁶₂ Met → Thr_β2 Detection of a Silent Mutant by High Performance Liquid Chromatography

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Hb Aztec or α762 Met → Thrβ2 Detection of a Silent Mutant by High Performance Liquid Chromatography

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Hb Aztec or α⁷⁶₂ Met → Thr_β2 Detection of a Silent Mutant by High Performance Liquid Chromatography