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

被引：0
|
作者：
Juhl, Anne Rudbeck [1 ]
Helby, Jens [1 ]
Nardo-Marino, Amina [1 ]
Petersen, Jesper [1 ]
Petersen, Elin Ellebaek [2 ]
Jensen, Kristoffer Neldeborg [2 ]
Szecsi, Pal Bela [3 ]
Bratholm, Palle S. [3 ]
Wang, Tobias [2 ]
Glenthoj, Andreas [1 ]
机构：
[1] Copenhagen Univ Hosp, Rigshosp, Danish Red Blood Cell Ctr, Dept Hematol, Copenhagen, Denmark
[2] Aarhus Univ, Dept Biosci, Zoophysiol, Aarhus, Denmark
[3] Holbaek Cent Hosp, Dept Clin Biochem, Holbaek, Denmark
来源：
HEMOGLOBIN | 2023年 / 47卷 / 04期
关键词：
Hemoglobin; hemoglobin variant; oxygen affinity; high affinity hemoglobin; high performance liquid chromatography; UNSTABLE VARIANT; ANEMIA;
D O I：
10.1080/03630269.2023.2262391
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We present a new hemoglobin variant, Hb Raklev, characterized by the substitution of leucine with glutamine at position 75 in the beta-globin chain. This variant was discovered inadvertently during an HbA(1c) 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.
引用
收藏
页码：140 / 144
页数：5
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