title: Hb Savaria [α49(CE7)Ser→Arg; HBA2: c.150C > A]: A New Case and Complete Description.
abstract: Hb Savaria [α49(CE7)Ser→Arg; HBA2: c.150C > A] is a rare hemoglobin (Hb) variant, initially described in Eastern Europe but present worldwide. It belongs to that class of variants which can be confused with Hb S [β6(A3)Glu→Val; HBB: c.20A > T] by automated protein analysis and thus needs special tests for proper identification. Because it could arise from different nucleotide substitutions and according to the rules of the Human Genome Variation Society (HGVS) nomenclature, three 'Hb Savaria' variants are possible. In the case reported here it resulted from the HBA2: c.148A > C change.
authors.affiliation: a Laboratoty of Metabolic Biochemistry , Assistance Publique-Hôpitaux De Paris (APHP), Centre Hospitalier Universitaire (CHU) Pitié Salpétrière , Paris , France .
authors.forename: Thi Hai Yen
authors.initials: TH
authors.lastname: Tran Houangkeo
authors.affiliation: b Laboratory of Genetics , Assistance Publique-Hôpitaux De Paris (APHP), Groupe Hospitalier Universitaire (GHU) Henri Mondor , Créteil , France .
authors.forename: Virginie
authors.initials: V
authors.lastname: Bodereau
authors.affiliation: b Laboratory of Genetics , Assistance Publique-Hôpitaux De Paris (APHP), Groupe Hospitalier Universitaire (GHU) Henri Mondor , Créteil , France .
authors.forename: Jean
authors.initials: J
authors.lastname: Riou
authors.affiliation: b Laboratory of Genetics , Assistance Publique-Hôpitaux De Paris (APHP), Groupe Hospitalier Universitaire (GHU) Henri Mondor , Créteil , France .|c Inserm Institut Mondor De Recherche Biologique (IMRB) U955 Eq 2, Universite Paris Est Crèteil (UPEC) , Créteil , France.
authors.forename: Serge
authors.initials: S
authors.lastname: Pissard
mesh_terms: D003951:Diagnostic Errors; D014644:Genetic Variation; D006443:Hemoglobin A2 / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D006451:Hemoglobin, Sickle; D006455:Hemoglobins, Abnormal; C046189:hemoglobin Savaria; D006443:Hemoglobin A2
keywords: Allelic heterogeneity; Hb S; Hb Savaria; Human Genome Variation Society (HGVS); protein analysis