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An unusual phenotypic expression of Hb-Leiden |
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| Authors: | W. A. Schroeder Darleen Powars Joan B. Shelton J. Roger Shelton J. B. Wilson T. H. J. Huisman Antranik A. Bedros |
| Affiliation: | 1. Division of Chemistry and Chemical Engineering, California Institute of Technology, 91125, Pasadena, California 2. Department of Pediatrics, University of Southern California School of Medicine, 90033, Los Angeles, California 3. Laboratory of Protein Chemistry, Department of Cell and Molecular Biology, Medical College of Georgia, 30912, Augusta, Georgia 4. Department of Pediatrics, Loma Linda University School of Medicine, 92350, Loma Linda, California |
| Abstract: | After a boy of Mexican-American descent became jaundiced during treatment of a serious urinary tract infection with an oxidant drug, an extensive hematological examination was made. The important finding was the presence of Hb-Leiden to the extent of less than 3% or about a tenth of the usual percentage. Although inclusion bodies are present in the erythrocytes at all times, his hematological parameters have remained normal. The genetic basis for the unusually small amount of Hb-Leiden in the propositus may be due to the Hb-Leiden gene in an anti-Lepore configuration, that is, and Hb-Leiden gene in cis to the normal β and δ genes. |
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