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

Standard

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

In: Hemoglobin, Vol. 47, No. 4, 2023, p. 140-144.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Juhl, AR, Helby, J, Nardo-Marino, A, Petersen, J, Petersen, EE, Jensen, KN, Szecsi, PB, Bratholm, PS, Wang, T & Glenthøj, A 2023, 'A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T > A (Leu→Gln)]', Hemoglobin, vol. 47, no. 4, pp. 140-144. https://doi.org/10.1080/03630269.2023.2262391

APA

Juhl, A. R., Helby, J., Nardo-Marino, A., Petersen, J., Petersen, E. E., Jensen, K. N., Szecsi, P. B., Bratholm, P. S., Wang, T., & Glenthøj, A. (2023). A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T > A (Leu→Gln)]. Hemoglobin, 47(4), 140-144. https://doi.org/10.1080/03630269.2023.2262391

Vancouver

Juhl AR, Helby J, Nardo-Marino A, Petersen J, Petersen EE, Jensen KN et al. A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T > A (Leu→Gln)]. Hemoglobin. 2023;47(4):140-144. https://doi.org/10.1080/03630269.2023.2262391

Author

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. / A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T > A (Leu→Gln)]. In: Hemoglobin. 2023 ; Vol. 47, No. 4. pp. 140-144.

Bibtex

@article{343113a3aea240a9831a6a691ca9e0c7,

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 = "Hemoglobin, hemoglobin variant, high affinity hemoglobin, high performance liquid chromatography, oxygen affinity",

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",

note = "Publisher Copyright: {\textcopyright} 2023 Informa UK Limited, trading as Taylor & Francis Group.",

year = "2023",

doi = "10.1080/03630269.2023.2262391",

language = "English",

volume = "47",

pages = "140--144",

journal = "Hemoglobin",

issn = "0363-0269",

publisher = "Taylor & Francis",

number = "4",

}

RIS

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

Y1 - 2023

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 - Hemoglobin

KW - hemoglobin variant

KW - high affinity hemoglobin

KW - high performance liquid chromatography

KW - oxygen affinity

U2 - 10.1080/03630269.2023.2262391

DO - 10.1080/03630269.2023.2262391

M3 - Journal article

C2 - 37752804

AN - SCOPUS:85173104036

VL - 47

SP - 140

EP - 144

JO - Hemoglobin

JF - Hemoglobin

SN - 0363-0269

IS - 4

ER -

ID: 396003358

Forskning