Hemoglobin variants: biochemical properties and clinical correlates
journal contribution
posted on 2023-05-17, 18:40 authored by Thom, CS, Dickson, CF, David GellDavid Gell, Weiss, MJDiseases 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.
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Publication title
Cold Spring Harbor Perspectives in MedicinePagination
1-22ISSN
2157-1422Department/School
Menzies Institute for Medical ResearchPublisher
Cold Spring Harbor Laboratory PressPlace of publication
United StatesRights statement
Copyright 2013 Cold Spring Harbor Laboratory PressRepository Status
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