Hb Port Huron alpha56(E5)Lys->Arg
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS No separation observed
CHROMATOGRAPHY No separation observed; the electrophortetic pattern of the Hb of the carrier was consistent with that of an Hb E heterozygote
STRUCTURE STUDIES The tryptic peptides were separated by reversed phase HPLC and their amino acid composition determined
DNA ANALYSES Limited to an Nla IV digestion of a PCR obtained alpha gene fragment that gave two specific fragments due to an AAG-> AGG mutation at codon 56; the mutated gene (alpha2 or alpha1) was not defined
OCCURRENCE Found in an African-American family
OTHER INFORMATION Some members were heterozygous for Hb E [beta26(B8)Glu-> Lys) and the discovery of the additional alpha-Port Huron mutation was accidental
1. Zwerdling, T., Williams, S., Nasr, S.A., and Rucknagel, D.L.: Hemoglobin, 15: 381, 1991.

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.