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

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

doi:10.1080/03630269.2023.2262391

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

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^*

^*Corresponding author af dette arbejde

Afdeling for Blodsygdomme

Abstract

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.

Originalsprog	Engelsk
Tidsskrift	Hemoglobin
Vol/bind	47
Udgave nummer	4
Sider (fra-til)	140-144
Antal sider	5
ISSN	0363-0269
DOI	https://doi.org/10.1080/03630269.2023.2262391
Status	Udgivet - nov. 2023

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

abstract = "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.",

keywords = "Adolescent, Chromatography, High Pressure Liquid, Female, Glutamine, Hemoglobins, Abnormal/genetics, Humans, Leucine, Middle Aged, beta-Globins/genetics",

author = "Juhl, {Anne Rudbeck} and Jens Helby and Amina Nardo-Marino and Jesper Petersen and Petersen, {Elin Elleb{\ae}k} and Jensen, {Kristoffer Neldeborg} and Szecsi, {Pal Bela} and Bratholm, {Palle S} and Tobias Wang and Andreas Glenth{\o}j",

year = "2023",

month = nov,

doi = "10.1080/03630269.2023.2262391",

language = "English",

volume = "47",

pages = "140--144",

journal = "Hemoglobin",

issn = "0363-0269",

publisher = "Taylor and Francis Ltd.",

number = "4",

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TY - JOUR

T1 - A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T > A (Leu→Gln)]

AU - Juhl, Anne Rudbeck

AU - Helby, Jens

AU - Nardo-Marino, Amina

AU - Petersen, Jesper

AU - Petersen, Elin Ellebæk

AU - Jensen, Kristoffer Neldeborg

AU - Szecsi, Pal Bela

AU - Bratholm, Palle S

AU - Wang, Tobias

AU - Glenthøj, Andreas

PY - 2023/11

Y1 - 2023/11

N2 - 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.

AB - 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.

KW - Adolescent

KW - Chromatography, High Pressure Liquid

KW - Female

KW - Glutamine

KW - Hemoglobins, Abnormal/genetics

KW - Humans

KW - Leucine

KW - Middle Aged

KW - beta-Globins/genetics

UR - http://www.scopus.com/inward/record.url?scp=85173104036&partnerID=8YFLogxK

U2 - 10.1080/03630269.2023.2262391

DO - 10.1080/03630269.2023.2262391

M3 - Journal article

C2 - 37752804

SN - 0363-0269

VL - 47

SP - 140

EP - 144

JO - Hemoglobin

JF - Hemoglobin

IS - 4

ER -

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

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