Viroj Wiwanitkit.
Single amino acid substitution in a-hemoglobinopathies: a study on disturbance on molecular function and biological process in some important disorders.
Pak J Med Res Jan ;45(3):75-7.

Background: The defect of globin chain is the main disorder in hemoglobinopathies characterized by absent or decreased synthesis of a- or b-globin chains, Unlike b-hemoglobinopathy, a-hemoglobinopathy is not well studied. Aims: To study the mutation and effect of many a-hemoglobinopathies to identify their function and biological process. Methods: A new gene ontology technique was used to predict the molecular function and biological process of five important hemoglobin disorders with single substitution. The five studied important abnormal hemoglobins with single substitution included Hb Agrino (29Leu-->Pro), Hb Siam (15Gly -> Arg), Hb Amsterdam (32Met-->Ile) and Hb Evanston (14 Try--> Arg). Results: Using GoFigure server, the molecular function and biological process in normal and abnormal hemoglobins was predicted. Comparing to normal hemoglobin, all studied abnormal hemoglobins had the same function and biological process meaning there by that the overall function as oxygen transportation is not disturbed in the studied hemoglobin disorders. Conclusion: Clinical findings suggest that oxygen depletion in abnormal hemoglobin is probably due to the other processes rather than genomics, proteomics and expression levels.

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