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A mosaic expression of this variant was detected by NGS (mutant 8%; wild type 92%), after negative results in Sanger sequencing. Hb Yamagata interfered with HbA measurements by cation exchange HPLC and CE whereas immuno and enzymatic assay values showed good agreement with boronate affinity HPLC measurement. A mosaicism of Hb Yamagata was found in a patient with altered HbA values. This rare gene variant was detected only by advanced technologies as MS and NGS. The variant interfered with common HbA determination methods. A mosaicism of
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