Article ID Journal Published Year Pages File Type
10817876 Clinical Biochemistry 2012 4 Pages PDF
Abstract
► Novel Hb was fortuitously detected in carrier with erythrocytosis on A1c analysis. ► Molecular modelling showed critical functional location of mutation. ► Functional analysis showed increased O2 affinity and decreased haptoglobin binding. ► Family studies showed only a mild response to tissue anoxia. ► Substitution correlated with structure, function and phenotype changes.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Authors
, , , ,