MUTATION		T->A at codon 14; TGG->AGG on an alpha-thal-2 chromosome [-alpha(Ev)]
AMINO ACID REPLACEMENT		Trp->Arg (Hb Evanston)
TYPE OF ALPHA-THAL		alpha-Thal-1 [-alpha(T)/alphaalpha]
MECHANISM		The rapid disappearance of Hb Evanston results in an alpha-thal-1 phenotype
IDENTIFICATION		Hb analyses; DNA hybridization; gene mapping
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 14.1-13.2 g/dl; MCV 71-77 fl; trace of Hb Evanston; no Hb H
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In two unrelated (?) Black families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		The probands have the phenotype of mild Hb H disease and the genotype -alpha/-alpha(Ev): Hb 9.7, 10.1 g/dl; MCV 60, 61 fl; Hb Evanston 7.4, 9.8%; trace of Hb H and Hb Bart's
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		The abnormal Hb can be isolated; has a normal stability, high oxygen affinity, but is rapidly catabolized

REFERENCES
1.		Honig, G.R., Shamsuddin, M., Vida, L.N., Mompoint, M., Valcourt, E., Bowie, L.J., Jones, E.C., Powers, P.A., Spritz, R.A., Guis, M., Embury, S.H., Conboy, J., Kan, Y.W., Mentzer, W.C., Weil, S.C., Hirata, R.K., Waloch, J., O'Riordan, J.F., and Goldstick, T.K.: J. Clin. Invest., 73:1740, 1984.

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This material is from the book A Syllabus of Thalassemia Mutations (1997) by Titus H.J. Huisman, Marianne F.H. Carver, and Erol Baysal, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1997 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 permission in writing from the Author.