Format

Send to

Choose Destination
N Engl J Med. 2011 May 12;364(19):1837-43. doi: 10.1056/NEJMoa1013579.

A hemoglobin variant associated with neonatal cyanosis and anemia.

Author information

1
Division of Neonatology, Case Western Reserve University, Cleveland, USA.

Erratum in

  • N Engl J Med. 2011 Jul 21;365(3):281.

Abstract

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 methionine is converted to aspartic acid post-translationally, probably through oxidative mechanisms. The presence of this polar amino acid in the heme pocket is predicted to enhance hemoglobin denaturation, causing anemia.

Comment in

PMID:
21561349
PMCID:
PMC3632254
DOI:
10.1056/NEJMoa1013579
[Indexed for MEDLINE]
Free PMC Article

Publication types, MeSH terms, Substances, Grant support

Publication types

MeSH terms

Substances

Grant support

Supplemental Content

Full text links

Icon for Atypon Icon for PubMed Central
Loading ...
Support Center