Heterozygosity of the Complex Corfu δ<sup>0</sup>β<sup>+</sup> Thalassemic Allele (<i>HBD</i> Deletion and HBB:c.92+5G>A) Revisited
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 (Hemoglo...
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MDPI AG
2022-03-01
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| author | Christos Kattamis Myrto Skafida Polyxeni Delaporta Christina Vrettou Joanne Traeger-Synodinos Christalena Sofocleous Antonis Kattamis |
| author_facet | Christos Kattamis Myrto Skafida Polyxeni Delaporta Christina Vrettou Joanne Traeger-Synodinos Christalena Sofocleous Antonis Kattamis |
| author_sort | Christos Kattamis |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T13:50:19Z |
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| issn | 2079-7737 |
| language | English |
| last_indexed | 2024-03-09T13:50:19Z |
| publishDate | 2022-03-01 |
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| series | Biology |
| spelling | doaj.art-9b9ba70b1ac34385b5dce4bd49dc0a372023-11-30T20:52:07ZengMDPI AGBiology2079-77372022-03-0111343210.3390/biology11030432Heterozygosity of the Complex Corfu δ<sup>0</sup>β<sup>+</sup> Thalassemic Allele (<i>HBD</i> Deletion and HBB:c.92+5G>A) RevisitedChristos Kattamis0Myrto Skafida1Polyxeni Delaporta2Christina Vrettou3Joanne Traeger-Synodinos4Christalena Sofocleous5Antonis Kattamis6Thalassemia Unit, Division Pediatric Hematology-Oncology, First Department of Pediatrics, National & Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, 11527 Athens, GreeceThalassemia Unit, Division Pediatric Hematology-Oncology, First Department of Pediatrics, National & Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, 11527 Athens, GreeceThalassemia Unit, Division Pediatric Hematology-Oncology, First Department of Pediatrics, National & Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, 11527 Athens, GreeceLaboratory of Medical Genetics, National & Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, 11527 Athens, GreeceLaboratory of Medical Genetics, National & Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, 11527 Athens, GreeceLaboratory of Medical Genetics, National & Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, 11527 Athens, GreeceThalassemia Unit, Division Pediatric Hematology-Oncology, First Department of Pediatrics, National & Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, 11527 Athens, GreeceThe 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.https://www.mdpi.com/2079-7737/11/3/432Corfu δ<sup>0</sup>β<sup>+</sup> thalassemic alleleβ-thalassemia variantsβ-thal hematological phenotypenormal HbA2high HbF |
| spellingShingle | Christos Kattamis Myrto Skafida Polyxeni Delaporta Christina Vrettou Joanne Traeger-Synodinos Christalena Sofocleous Antonis Kattamis Heterozygosity of the Complex Corfu δ<sup>0</sup>β<sup>+</sup> Thalassemic Allele (<i>HBD</i> Deletion and HBB:c.92+5G>A) Revisited Biology Corfu δ<sup>0</sup>β<sup>+</sup> thalassemic allele β-thalassemia variants β-thal hematological phenotype normal HbA2 high HbF |
| title | Heterozygosity of the Complex Corfu δ<sup>0</sup>β<sup>+</sup> Thalassemic Allele (<i>HBD</i> Deletion and HBB:c.92+5G>A) Revisited |
| title_full | Heterozygosity of the Complex Corfu δ<sup>0</sup>β<sup>+</sup> Thalassemic Allele (<i>HBD</i> Deletion and HBB:c.92+5G>A) Revisited |
| title_fullStr | Heterozygosity of the Complex Corfu δ<sup>0</sup>β<sup>+</sup> Thalassemic Allele (<i>HBD</i> Deletion and HBB:c.92+5G>A) Revisited |
| title_full_unstemmed | Heterozygosity of the Complex Corfu δ<sup>0</sup>β<sup>+</sup> Thalassemic Allele (<i>HBD</i> Deletion and HBB:c.92+5G>A) Revisited |
| title_short | Heterozygosity of the Complex Corfu δ<sup>0</sup>β<sup>+</sup> Thalassemic Allele (<i>HBD</i> Deletion and HBB:c.92+5G>A) Revisited |
| title_sort | heterozygosity of the complex corfu δ sup 0 sup β sup sup thalassemic allele i hbd i deletion and hbb c 92 5g a revisited |
| topic | Corfu δ<sup>0</sup>β<sup>+</sup> thalassemic allele β-thalassemia variants β-thal hematological phenotype normal HbA2 high HbF |
| url | https://www.mdpi.com/2079-7737/11/3/432 |
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