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Hemoglobin variants: biochemical properties and clinical correlates

Citation

Thom, CS and Dickson, CF and Gell, DA and Weiss, MJ, Hemoglobin variants: biochemical properties and clinical correlates, Cold Spring Harbor Perspectives in Medicine, 3, (3) pp. 1-22. ISSN 2157-1422 (2013) [Refereed Article]


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Copyright Statement

Copyright 2013 Cold Spring Harbor Laboratory Press

DOI: doi:10.1101/cshperspect.a011858

Abstract

Diseases affecting hemoglobin synthesis and function are extremely common worldwide. More than 1000 naturally occurring human hemoglobin variants with single amino acid substitutions throughout the molecule have been discovered, mainly through their clinical and/or laboratory manifestations. These variants alter hemoglobin structure and biochemical properties with physiological effects ranging from insignificant to severe. Studies of these mutations in patients and in the laboratory have produced a wealth of information on hemoglobin biochemistry and biology with significant implications for hematology practice. More generally, landmark studies of hemoglobin performed over the past 60 years have established important paradigms for the disciplines of structural biology, genetics, biochemistry, and medicine. Here we review the major classes of hemoglobin variants, emphasizing general concepts and illustrative examples. © 2013 Cold Spring Harbor Laboratory Press; all rights reserved.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Medical Biochemistry and Metabolomics
Research Field:Medical Biochemistry: Proteins and Peptides (incl. Medical Proteomics)
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Blood Disorders
Author:Dickson, CF (Miss Claire Dickson)
Author:Gell, DA (Dr David Gell)
ID Code:85411
Year Published:2013
Web of Science® Times Cited:25
Deposited By:Menzies Institute for Medical Research
Deposited On:2013-07-04
Last Modified:2017-11-06
Downloads:1 View Download Statistics

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