Molecular Characterization of a Novel 55.1 kb ^Gγ(^Aγδβ)⁰-thalassemia Deletion in Two Canadian Families

Abstract

We report two Canadian families in which there are four carriers of a novel ^Gγ(^Aγδβ)⁰-thalassemia deletion. The patients all have mild microcytosis and hypochromia, and elevated levels of Hb F ranging from 9.7 to 17.3%. The precise endpoints of the deletion have been identified and are unique relative to other forms of ^Gγ(^Aγδβ)⁰-thal reported in the literature. The deletion encompasses ∼55.1 kb, beginning ∼1.6 kb downstream of the ^Gγ-globin gene and extending ∼29.0 kb downstream of the β-globin gene.

Keywords:

• ^Gγ(^Aγδβ)⁰-Thalassemia (^Gγ(^Aγδβ)⁰-thal)
• Novel deletion

ACKNOWLEDGMENTS

This project was funded in part through the Hamilton Health Sciences High School Health Research Bursary Award Program.

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.