| Summary: | The Corfu δ<sup>0</sup>β<sup>+</sup> thalassemic allele is a unique thalassemic allele consisting of the simultaneous presence in cis of a deletion of the δ-globin (Hemoglobin Subunit Delta, <i>HBD</i>) and a single nucleotide variant in the β-globin gene (Hemoglobin Subunit Beta, <i>HBB</i>). The allele has, so far, been described in individuals of Greek origin. The objectives of the study are to ascertain the prevalence of the Corfu δ<sup>0</sup>β<sup>+</sup> allele in comparison to other β-thalassemia variants encountered in Greece using our in-house data repository of 2558 β-thalassemia heterozygotes, and to evaluate the hematological phenotype of Corfu δ<sup>0</sup>β<sup>+</sup> heterozygotes in comparison to heterozygotes with the most common β<sup>+</sup>- and deletion α<sup>0</sup>- thalassemia variants in Greece. The results of the study showed a relative incidence of heterozygotes with Corfu δ<sup>0</sup>β<sup>+</sup> at 1.56% of all β-thalassemic alleles, and a distinct hematological phenotype of the heterozygotes characterized by microcytic, hypochromic anemia with normal levels of HbA<sub>2</sub> (Hemoglobin A2) and elevated HbF (Hemoglobin F) levels. The application of a specific methodology for the identification of the Corfu δ<sup>0</sup>β<sup>+</sup> allele is important for precise prenatal and antenatal diagnosis programs in Greece.
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