A Novel β-Globin Variant, Hb Raklev [β 75(E19) <i>HBB</i> :c.227T > A (Leu→Gln)]-Reference-Cited by-同舟云学术

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

Published:2023-07-04 Issue:4 Volume:47 Page:140-144
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Juhl Anne Rudbeck¹,Helby Jens¹,Nardo-Marino Amina¹,Petersen Jesper¹,Petersen Elin Ellebæk²,Jensen Kristoffer Neldeborg²,Szecsi Pal Bela³,Bratholm Palle S.³,Wang Tobias²,Glenthøj Andreas¹

Affiliation:

1. Department of Hematology, Danish Red Blood Cell Center, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark

2. Zoophysiology, Department of Bioscience, Aarhus University, Aarhus, Denmark

3. Department of Clinical Biochemistry, Holbæk Hospital, Holbæk, Denmark

Publisher

Informa UK Limited

Subject

Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2023.2262391

Reference16 articles.

1. A Review of Variant Hemoglobins Interfering with Hemoglobin A1c Measurement

2. IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

3. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

4. Hemoglobin Variants: Biochemical Properties and Clinical Correlates

5. Haemoglobinopathia Ypsilanti – A rare, but important differential diagnosis to polycythaemia vera

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