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.

Keywords:

• Allelic heterogeneity
• Human Genome Variation Society (HGVS)
• Hb S
• Hb Savaria
• protein analysis

Acknowledgments

We are indebted to Dr. Henri Wajcman (Director of Research Emeritus INSERM, Institut Mondor de Recherche Biologique U955 eq 2, Créteil, France) for fruitful discussions and constant support.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.