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Mann S.G
Mann S.G

Public Documents 1
Hb Yoshkar-Ola [β141(H19)Leu—Pro (CTG>CCG); HBB: c.425T>C]: a new hyper unstabl...
Mann S.G
Raikina E.V.

Mann S.G

and 5 more

April 26, 2025
We report a new hyper unstable abnormal hemoglobin variant found in a Russian family. NGS revealed a new, previously unreported genetic variant in the 3’ exon of the β-globin gene [β141(H19)Leu-Pro (CTG>CCG); HBB: c.425T>C]. This variant was confirmed by Sanger sequencing in the patient and was not found in his parents. Capillary electrophoresis (CE) and reversed-phase high-performance liquid chromatography (RP-HPLC) were within normal limits. We named this hemoglobin variant Hb Yoshkar-Ola after the birthplace of the proband.

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