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

More than 900 abnormal hemoglobin (Hb) ß 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 ß 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 [ß69(E13)Gly→Ser; HBB: c.208G>A] and ß-thalassemia (ß-thal), that compromises the molecular diagnosis of ß-thal trait.