| Autor: |
Crowley MA; Division of Neonatology, Case Western Reserve University, Cleveland, USA., Mollan TL, Abdulmalik OY, Butler AD, Goodwin EF, Sarkar A, Stolle CA, Gow AJ, Olson JS, Weiss MJ |
| Jazyk: |
angličtina |
| Zdroj: |
The New England journal of medicine [N Engl J Med] 2011 May 12; Vol. 364 (19), pp. 1837-43. |
| DOI: |
10.1056/NEJMoa1013579 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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