Abstract:
:This paper reports a new hemoglobin variant which was identified while investigating the cause of a mild erythrocytosis. The abnormal beta-globin chain was detected by reversed phase chromatography. Mutation mapping of the beta-globin gene by polymerase chain reaction and denaturing gradient gel electrophoresis followed by sequence analysis revealed a C-->A transversion at codon 38, predicting a Thr-->Asn substitution. Tryptic peptide mapping by liquid chromatography electrospray mass spectrometry, followed by conventional Edman peptide sequence analysis, confirmed the predicted amino acid substitution. In contrast to the only other known mutation at codon 38, Hb Hazebrouck (Thr-->Pro), this hemoglobin is stable and shows elevated oxygen affinity.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Frischknecht H,Ventruto M,Hess D,Hunziker P,Rosatelli MC,Cao A,Breitenstein U,Fehr J,Tuchschmid Pdoi
10.3109/03630269609027908subject
Has Abstractpub_date
1996-02-01 00:00:00pages
31-40issue
1eissn
0363-0269issn
1532-432Xjournal_volume
20pub_type
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