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

We report the discovery of a novel β-globin gene variant, Hb Odder, characterized by a single nucleotide substitution; :c.316C > G; CD105 (Leu > Val). This variant emerged incidentally during routine HbA1c measurements for diabetes monitoring. The patient exhibited no clinical or biochemical e...

Full description

Saved in:
Bibliographic Details
Published inHemoglobin p. 1
Main Authors Gravholt, Esther Agnethe Ejskjær, Petersen, Jesper, Mørk, Morten, Glenthøj, Andreas
Format Journal Article
LanguageEnglish
Published England 03.07.2024
Subjects
novel variant
Hemoglobinopathy
beta-globin
thalassemia
HbA1c
hemoglobin
Online AccessGet more information

Cover

More Information
Summary:We report the discovery of a novel β-globin gene variant, Hb Odder, characterized by a single nucleotide substitution; :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.
ISSN:1532-432X
DOI:10.1080/03630269.2024.2355125