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Greece is a country of ~11 million people, where hemoglobinopathies are the most common genetic diseases. The reported data describe the clinical phenotype of cases with coinheritance of triplicated α-globin (anti-α3.7 kb) and β-globin gene mutations in Northern Greece, that were referred within the last 10 years, in The Adult Thalassemia Unit of "Hippokration" Hospital, Thessaloniki, Northern Greece. The description of specific genotypes of the β-globin gene mutations in coinheritance with the triplicated α-globin gene (anti-α3.7 kb) and correlation with the hematologic and clinical data in adulthood may be useful in the evaluation of pediatric patients' prognosis and in genetic counseling of couples at risk.

Citation

Stamatia Theodoridou, Angeliki Balassopoulou, Effrossyni Boutou, Evangelia-Eleni Delaki, Eleni Yfanti, Timoleon-Achilleas Vyzantiadis, Evangelia Vetsiou, Ersi Voskaridou, Efthymia Vlachaki. Coinheritance of Triplicated Alpha-Globin Gene and Beta-Thalassemia Mutations in Adulthood: Ten Years of Referrals in Northern Greece. Journal of pediatric hematology/oncology. 2020 Nov;42(8):e762-e764

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PMID: 32032239

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