Hb Peterborough beta111(G13)Val->Phe
CONTACT Internal
HEMATOLOGY Mild anemia in the heterozygote; reticulocytosis
ELECTROPHORESIS No separation reported using standard techniques
CHROMATOGRAPHY No separation of Hb X and Hb A reported; the variant was obtained from a blood sample of a subject who was also heterozygous for Hb Lepore
STRUCTURE STUDIES Tryptic digestion of AE-globin; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTC->TTC at codon 111
FUNCTION STUDIES Decreased oxygen affinity; normal Bohr effect and cooperativity
OCCURRENCE Found in a few members of an Italian family living in England
OTHER INFORMATION The son is heterozygous for Hb X (33.4%) and Hb Lepore
1. King, M.A.R., Wiltshire, B.G., Lehmann, H., and Morimoto, H.: Br. J. Haematol., 22:125, 1972.

This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.