A hemoglobin variant associated with neonatal cyanosis and anemia.
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ABSTRACT:
SUBMITTER: Crowley MA
PROVIDER: S-EPMC3632254 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
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A hemoglobin variant associated with neonatal cyanosis and anemia.
Crowley Moira A MA Mollan Todd L TL Abdulmalik Osheisa Y OY Butler Andrew D AD Goodwin Emily F EF Sarkar Arindam A Stolle Catherine A CA Gow Andrew J AJ Olson John S JS Weiss Mitchell J MJ
The New England journal of medicine 20110501 19
Globin-gene mutations are a rare but important cause of cyanosis. We identified a missense mutation in the fetal Gγ-globin gene (HBG2) in a father and daughter with transient neonatal cyanosis and anemia. This new mutation modifies the ligand-binding pocket of fetal hemoglobin by means of two mechanisms. First, the relatively large side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit and the rate at which it does so. Second, the mutant methi ...[more]
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