We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Heterozygosity of the Complex Corfu δ 0 β + Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited.
- Authors
Kattamis, Christos; Skafida, Myrto; Delaporta, Polyxeni; Vrettou, Christina; Traeger-Synodinos, Joanne; Sofocleous, Christalena; Kattamis, Antonis
- Abstract
Simple Summary: The Corfu δ0β+ thalassemic allele, a unique thalassemic allele combining a deletion of the δ-globin (HBD) and a single nucleotide variant in the β-globin gene (HBB) in cis has, so far, been described only in individuals of Greek origin. The heterozygosity of Corfu δ0β+ is detected in 1–2% of the β-thalassemia carrier population and presents a distinct hematological phenotype of microcytic, hypochromic anemia with normal HbA2 and elevated HbF levels. The study of the Corfu δ0β+ allele is important for genotype resolution, genetic counseling and prenatal/antenatal diagnosis, and the management of patients. The Corfu δ0β+ thalassemic allele is a unique thalassemic allele consisting of the simultaneous presence in cis of a deletion of the δ-globin (Hemoglobin Subunit Delta, HBD) and a single nucleotide variant in the β-globin gene (Hemoglobin Subunit Beta, HBB). 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 δ0β+ 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 δ0β+ heterozygotes in comparison to heterozygotes with the most common β+- and deletion α0- thalassemia variants in Greece. The results of the study showed a relative incidence of heterozygotes with Corfu δ0β+ 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 HbA2 (Hemoglobin A2) and elevated HbF (Hemoglobin F) levels. The application of a specific methodology for the identification of the Corfu δ0β+ allele is important for precise prenatal and antenatal diagnosis programs in Greece.
- Subjects
CORFU Island (Greece); GREECE; SINGLE nucleotide polymorphisms; PHENOTYPES; ALLELES; HETEROZYGOSITY; DATA libraries; GENETIC counseling; GENETIC variation
- Publication
Biology (2079-7737), 2022, Vol 11, Issue 3, p432
- ISSN
2079-7737
- Publication type
Article
- DOI
10.3390/biology11030432