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Hb Savaria [α49(CE7)Ser→Arg; HBA2: c.150C > A]: A New Case and Complete Description
Thi Hai Yen Tran Houangkeo1, Virginie Bodereau2, Jean Riou2
1a Laboratoty of Metabolic Biochemistry , Assistance Publique-Hôpitaux De Paris (APHP), Centre Hospitalier Universitaire (CHU) Pitié Salpétrière , Paris , France .
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.
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