title: Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family.
abstract: The abnormal hemoglobin (Hb) with an aspartic acid to asparagine substitution at α64 has been found on both the α2- and α1-globin genes. It has been described in many different populations under different names, but never in Bulgaria. Using the recently proposed nomenclature, Hb G-Waimanalo [A1] refers to the HBA1: c.193G > A, while Hb G-Waimanalo [A2] refers to the HBA2: c.193G > A mutation. Here, we present the first family from Bulgaria with Hb G-Waimanalo [A1].
authors.affiliation: a University Children's Clinic, Faculty of Medicine, Trakia University , Stara Zagora , Bulgaria.
authors.forename: Georgi
authors.initials: G
authors.lastname: Petkov
authors.affiliation: b Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and Arts , Skopje , Republic of Macedonia.
authors.forename: Marija
authors.initials: M
authors.lastname: Dimishkovska
authors.affiliation: c Central Clinical Laboratory, Faculty of Medicine, Trakia University , Stara Zagora , Bulgaria.
authors.forename: Vanya
authors.initials: V
authors.lastname: Tsoneva Ivanova
authors.affiliation: d Department of Ophthalmology and General Medicine, Faculty of Medicine , Trakia University , Stara Zagora , Bulgaria.
authors.forename: Georgi
authors.initials: G
authors.lastname: Yordanov
authors.affiliation: e Clinic of Surgery, Faculty of Medicine, Trakia University , Stara Zagora , Bulgaria.
authors.forename: Alexandar
authors.initials: A
authors.lastname: Zdraveski
authors.affiliation: b Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov", Macedonian Academy of Sciences and Arts , Skopje , Republic of Macedonia.
authors.forename: Dijana
authors.initials: D
authors.lastname: Plaseska-Karanfilska
mesh_terms: D000293:Adolescent; D000328:Adult; D000747:Anemia, Hypochromic / Q000175:diagnosis / Q000235:genetics; D002031:Bulgaria; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004909:Erythrocyte Indices; D005190:Family; D005260:Female; D005838:Genotype; D006442:Glycated Hemoglobin / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C033430:hemoglobin G Waimanalo
keywords: Hb Burgos; Hb G-Waimanalo; Hb Wädenswil; hemoglobin (Hb) variant