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

Anne Rudbeck Juhl, Jens Helby, Amina Nardo-Marino, Jesper Petersen, Elin Ellebæk Petersen, Kristoffer Neldeborg Jensen, Pal Bela Szecsi, Palle S Bratholm, Tobias Wang, Andreas Glenthøj*

*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Abstract

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.

OriginalsprogEngelsk
Sider (fra-til)140-144
Antal sider5
TidsskriftHemoglobin
Vol/bind47
Udgave nummer4
Tidlig onlinedato26 sep. 2023
DOI
StatusUdgivet - nov. 2023

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