A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB :c.227T > A (Leu→Gln)]

We present a new hemoglobin variant, Hb Raklev, characterized by the substitution of leucine with glutamine at position 75 in the β-globin chain. This variant was discovered inadvertently during an HbA1c evaluation using high performance liquid chromatography in a symptomless 54-year-old Caucasian w...

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Published inHemoglobin Vol. 47; no. 4; pp. 140 - 144
Main Authors Juhl, Anne Rudbeck, Helby, Jens, Nardo-Marino, Amina, Petersen, Jesper, Petersen, Elin Ellebæk, Jensen, Kristoffer Neldeborg, Szecsi, Pal Bela, Bratholm, Palle S., Wang, Tobias, Glenthøj, Andreas
Format Journal Article
LanguageEnglish
Published 04.07.2023
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Summary:We present a new hemoglobin variant, Hb Raklev, characterized by the substitution of leucine with glutamine at position 75 in the β-globin chain. This variant was discovered inadvertently during an HbA1c evaluation using high performance liquid chromatography in a symptomless 54-year-old Caucasian woman, with the same variant also identified in her 16-year-old daughter. Purification of the hemoglobin revealed possibly diminished 2,3-bisphosphoglycerate (2,3-BPG) sensitivity, which may result in heightened oxygen affinity. Notably, two variants have been previously documented at this location: the unstable Hb Atlanta and the high-affinity Hb Pasadena.
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ISSN:0363-0269
1532-432X
DOI:10.1080/03630269.2023.2262391