A unique origin for Sicilian (δβ){ring operator}-thalassemia in 33 unrelated families and its rapid diagnostic characterization by PCR analysis

Gabriella Esposito, Michela Grosso, Enrico Gottardi, Paola Izzo, Clara Camaschella, Francesco Salvatore

Research output: Contribution to journalArticle

Abstract

Direct sequencing and restriction enzyme digestion of the polymerase chain reaction (PCR) product encompassing the breakpoint were used to characterize the Sicilian (δβ){ring operator}-thalassemia deletion in 33 unrelated Italian subjects. All cases showed the same sequencing features at the breakpoint region, suggesting a unique origin for this deletion in Italy. We also describe a one-step PCR assay for the rapid screening of homozygotes and carriers of Sicilian (δβ){ring operator}-thalassemia by the simultaneous use of three specific oligonucleotides. This procedure could have an impact on genetic counseling of couples at risk for this type of thalassemia, and with respect to compound heterozygotes bearing a Sicilian chromosome.

Original languageEnglish
Pages (from-to)691-693
Number of pages3
JournalHuman Genetics
Volume93
Issue number6
DOIs
Publication statusPublished - Jun 1994

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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