Hb Washtenaw beta11(A8)Val->Phe
CONTACT Internal
HEMATOLOGY (Nearly) normal in the heterozygote; some cyanosis seen
ELECTROPHORESIS No separation observed
CHROMATOGRAPHY No separation observed by ion exchange chromatography; the variant was detected because the betaA and betaX chains separated by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion of betaX chain; reversed phase HPLC; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GTT->TTT at codon 11
FUNCTION STUDIES Decreased oxygen affinity
STABILITY Slightly unstable
OCCURRENCE Found in several members of a Hungarian-American family
OTHER INFORMATION An association between the inheritance of this abnormal Hb and the pathogenesis of primary pulmonary hypertension is suggested; quantity in the heterozygote is estimated at about 40%
1. Krishnan, K., Martinez, F., Wille, R.T., Jones, R.T., Shih, D.T., Head, C., Fairbanks, V.F., and Dabich, L.: Hemoglobin 18:285, 1994.

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.