Coinheritance of Hb City of Hope (HBB: c.208G>A) and β-Thalassemia: Compromising the Molecular Diagnosis of the Codons 71/72 (+A) (HBB: c.216_217insA) Mutation by Reverse Dot-Blot Hybridization

Abstract

More than 900 abnormal hemoglobin (Hb) β chain variants have now been characterized. The majority are due to point mutations resulting in a single amino acid substitution within the globin gene involved, with nearly twice as many β chain variants identified compared to α chain variants. Although most of these variants are clinically and hematologically silent, they can interact with different thalassemia mutations, which could sometimes render laboratory diagnostics in a routine setting difficult. In this study, we present a case of coinheritance of Hb City of Hope [β69(E13)Gly→Ser; HBB: c.208G>A] and β-thalassemia (β-thal), that compromises the molecular diagnosis of β-thal trait.

Keywords:

• β-Thalassemia (β-thal)
• double heterozygote
• Hb City of Hope
• hemoglobinopathies
• Reverse dot-blot hybridization

Disclosure statement

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

Additional information

Funding

This study was supported by a grant from Guangzhou Institute of Pediatrics/Guangzhou Women and Children’s Medical Center [IP-2019-004].