A New Hemoglobin Variant, Hb Natal (HBA1: c.423C>A), Found in a Greek Family. (4th March 2022)

• Record Type: Journal Article
• Authors: Efstathiou, Anna; Boutou, Effrossyni; Teli, Aikaterini; Drikos, Ioannis; Balassopoulou, Angeliki; Theodoridou, Stamatia
• Is Part Of: Hemoglobin. Volume 46:Number 2(2022)
• Page Start: 132
• Page End: 136
• Publication Date: 2022-03-04
• Subjects: Hb Natal -- pregnancy -- prepregnancy counseling -- thalassemia; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2022.2086134
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: The rare hemoglobin (Hb) variant Hb Natal [α140(HC2)Tyr-Arg→0 ( HBA2 : c.423C>A)], detected on the α2-globin gene, is characterized by a shortened polypeptide chain because of a premature stop codon formation in codon 140. Here, we report identification of the same genetic variation but in the corresponding position of the α1-globin gene, in a heterozygous state, in five members of a Greek family. All carriers of Hb Natal (αα Natal /αα) present with mild hematological and no clinical findings. This innocuous Hb variant was initially detected, in the context of the national prevention program for hemoglobinopathies, by high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Identification of the variant was performed by molecular analysis of the α-globin genes. This is the first description of a heterozygous Hb Natal in a Greek family, and the first description of this genetic variant on the HBA1 gene, worldwide.