Sudanese (δβ)⁰-Thalassemia: Identification and Characterization of a Novel 9.6 kb Deletion

Abstract

We report a case of δβ-thalassemia (δβ-thal) trait in an adult male originally from Sudan. Multiplex ligation-dependent probe amplification (MLPA) was used to localize the approximate boundaries of the deletion, followed by polymerase chain reaction (PCR) amplification and sequence analysis of the junction fragment to determine the precise deletion endpoints. The deletion spans 9594 bp, with the 5' deletion endpoint located 1560 bp upstream of the δ-globin gene and the 3' endpoint within the second intervening sequence (IVS-II) of the β-globin gene.

• (δβ)⁰-thalassemia [(δβ)⁰-thal]
• deletion
• Hb F silencer region
• Sudanese

Declaration of interest

Tiffany Got was a recipient of a High School Summer Student Research Bursary Award from Hamilton Health Sciences, Hamilton, Ontario, Canada. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.