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

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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
TidsskriftHemoglobin
Vol/bind47
Udgave nummer4
Sider (fra-til)140-144
Antal sider5
ISSN0363-0269
DOI
StatusUdgivet - 2023

Bibliografisk note

Funding Information:
The author(s) reported there is no funding associated with the work featured in this article.

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