Abstract
We describe a novel hemoglobin (Hb) variant, caused by a CCC > TCC transition at codon 77 on the α gene. The mutation was found in two unrelated patients, in one patient on the α1 gene and in the other patient on the α2 gene. Both are anemic patients of African origin. Due to the neutral Pro→Ser substitution, Hb Nile could not be separated from Hb A with common short-run screening methods for high performance liquid chromatography (HPLC) and capillary electrophoresis, but was evidently present after prolonged cation exchange HPLC or separation by isoelectric focusing (IEF). Reversed phase HPLC separation of the globin chains revealed the normal and abnormal α chains with an expression of about 20% for Hb Nile[A1], indicative of normal expression and stability of the mutant protein.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
