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%

REFERENCES
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.

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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.