A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T > A (Leu→Gln)]
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
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Journal | Hemoglobin |
Volume | 47 |
Issue number | 4 |
Pages (from-to) | 140-144 |
Number of pages | 5 |
ISSN | 0363-0269 |
DOIs | |
Publication status | Published - 2023 |
Bibliographical note
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- Hemoglobin, hemoglobin variant, high affinity hemoglobin, high performance liquid chromatography, oxygen affinity
Research areas
ID: 396003358