Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup)

Abstract

Newborn screening identified a Chinese-Canadian infant who was positive for possible β-thalassemia (β-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for the Chinese ^Gγ(^Aγδβ)⁰-thal deletion and a novel frameshift mutation within exon 3 (HBB:c.336dup), and heterozygous for the Southeast Asian α-thal deletion (−−^SEA/αα). This case illustrates the importance of follow-up molecular testing of positive newborn screening results to confirm the diagnosis and define risks for future pregnancies.

Keywords:

• β-globin gene
• frameshift mutation
• complex genotype

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The authors report no conflict of interest. The authors alone are responsible for the content and writing of this article.

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Funding

The author(s) reported there is no funding associated with the work featured in this article.