Hb Hinwil or β38(C4)THR→ASN: A new β Chain Variant Detected in a Swiss Family
1996; Taylor & Francis; Volume: 20; Issue: 1 Linguagem: Inglês
10.3109/03630269609027908
ISSN1532-432X
AutoresHannes Frischknecht, Marialuisa Ventruto, Daniel Heß, Peter Hunziker, Maria Cristina Rosatelli, Antonio Cao, U. Breitenstein, Jan Fehr, P. Tuchschmid,
Tópico(s)Hemoglobinopathies and Related Disorders
ResumoThis paper reports a new hemoglobin variant which was identified while investigating the cause of a mild erythrocytosis. The abnormal β-globin chain was detected by reversed phase chromatography. Mutation mapping of the β-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.
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