Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Nov;47(4):140-144.
doi: 10.1080/03630269.2023.2262391. Epub 2023 Nov 3.

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

Anne Rudbeck Juhl  1 , Jens Helby  1 , Amina Nardo-Marino  1 , Jesper Petersen  1 , Elin Ellebæk Petersen  2 , Kristoffer Neldeborg Jensen  2 , Pal Bela Szecsi  3 , Palle S Bratholm  3 , Tobias Wang  2 , Andreas Glenthøj  1
Affiliations
Case Reports

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

Anne Rudbeck Juhl et al. Hemoglobin. 2023 Nov.

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.

PubMed Disclaimer

Publication types

LinkOut - more resources