A Novel β-Globin Variant, Hb Odder [HBB: C.316C > G; CD105 (Leu > Val)]

Research output: Contribution to journalJournal articleResearchpeer-review

We report the discovery of a novel β-globin gene variant, Hb Odder, characterized by a single nucleotide substitution; HBB:c.316C > G; CD105 (Leu > Val). This variant emerged incidentally during routine HbA1c measurements for diabetes monitoring. The patient exhibited no clinical or biochemical evidence of anemia or hemolysis. Our data on this variant suggest that Hb Odder is benign, regrettably limitations in our data make formal evaluations of stability and oxygen affinity impossible; additionally this emphasizes the importance of considering hemoglobin variants in the differential diagnosis of abnormal Hb A1c levels and suggest that laboratories should use alternative methods for the correct measurement of Hb A1c when hemoglobin variants interfere with diabetes monitoring. Notably, three other mutations have been described at codon 105 of the β globin chains and correspond to three Hb variants with different characteristics: Hb South Milwaukee, Hb Bellevue IV and Hb St. George.

Original languageEnglish
JournalHemoglobin
Number of pages4
ISSN0363-0269
DOIs
Publication statusAccepted/In press - 2024

Bibliographical note

Publisher Copyright:
© 2024 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.

    Research areas

  • beta-globin, HbA1c, hemoglobin, Hemoglobinopathy, novel variant, thalassemia

ID: 399156930