Hb South Milwaukee beta105(G7)Leu->Phe
CONTACT Internal
HEMATOLOGY Erythrocytosis in the heterozygote
ELECTROPHORESIS No separation by standard procedures or IEF
STRUCTURE STUDIES Tryptic digestion of AE-betaX+betaA chains; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CTC->TTC at codon 105
FUNCTION STUDIES Increased oxygen affinity; normal Bohr effect; decreased cooperativity
OCCURRENCE Found in 15 members of a family of English ancestry
OTHER INFORMATION Some carriers require phlebotomy to relieve symptoms of chest pain, dizziness, and fatigue
1. Honig, G.R., Vida, L.N., Latorraca, R., and Divgi, A.B.: Am. J. Hematol., 34:199, 1990.

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.