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

Autor:	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
Předmět:	HIGH performance liquid chromatography HEMOGLOBIN polymorphisms
Zdroj:	Hemoglobin; 2023, Vol. 47 Issue 4, p140-144, 5p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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