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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This study was supported in part by Grants HL-02558, HL-15162, HL-05168, and HL-15158 from the National Institutes of Health, U.S. Public Health Service. Contribution No. 6622, Division of Chemistry and Chemical Engineering, California Institute of Technology, Pasadena; Contribution No. 0705, Laboratory of Protein Chemistry, Department of Cell and Molecular Biology, Medical College of Georgia, Augusta.
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Schroeder, W.A., Powars, D., Shelton, J.B. et al. An unusual phenotypic expression of Hb-Leiden. Biochem Genet 20, 1175–1187 (1982). https://doi.org/10.1007/BF00498941
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DOI: https://doi.org/10.1007/BF00498941