A Hemoglobin Variant Associated with Neonatal Cyanosis and Anemia  

Oleh:

Crowley, Moira A. ; Mollan, Todd L. ; Abdulmalik, Osheisa Y. ; Butler, Andrew D.

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 364 no. 19 (May 2011), page 1837-1843.
Topik: Globin Gene Mutations
Fulltext: Neonatal Cyanosis.pdf (272.75KB)

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2011.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Globin-gene mutations are a rare but important cause of cyanosis. We identified a missense mutation in the fetal G?-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.

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