一种新的β-球蛋白变体Hb-Raklev[β75（E19）HBB:c.227T > A（Leu→Gln）]。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2023-11-01 Epub Date: 2023-11-03 DOI:10.1080/03630269.2023.2262391

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

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引用次数: 0

摘要

我们提出了一种新的血红蛋白变体Hb-Raklev，其特征是在β-珠蛋白链的75位用谷氨酰胺取代亮氨酸。在使用高效液相色谱法对一名无症状的54岁高加索女性进行HbA1c评估时，无意中发现了这种变体，在她16岁的女儿身上也发现了同样的变体。血红蛋白的纯化显示，2，3-二磷酸甘油酯（2，3-BPG）的敏感性可能降低，这可能导致氧亲和力增强。值得注意的是，在这个位置之前已经记录了两种变体：不稳定的Hb Atlanta和高亲和力的Hb Pasadena。

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

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 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.

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来源期刊

Hemoglobin 医学-生化与分子生物学

CiteScore

1.70

自引率

10.00%

发文量

审稿时长

3 months

期刊介绍： Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders