An unusual phenotypic expression of Hb-Leiden

✍ Scribed by W. A. Schroeder; Darleen Powars; Joan B. Shelton; J. Roger Shelton; J. B. Wilson; T. H. J. Huisman; Antranik A. Bedros

• Book ID: 104787397
• Publisher: Springer
• Year: 1982
• Tongue: English
• Weight: 574 KB
• Volume: 20
• Category: Article
• ISSN: 0006-2928
• DOI: 10.1007/bf00498941

✦ Synopsis

After a boy of Mexican-American descent became jaundiced during treatment of a serious urinary tract infection kwith an oxidant drug, an extensive hematological examination was made. The important finding was the presence of lib-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 lib-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 fl and 6 genes.