MUTATION		Codon 8 (-AA); AAG(Lys)->--G
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift results in termination of translation at codon 21 (TGA)
IDENTIFICATION		Cloning of the beta-globin gene; amplification of the beta-globin gene; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 9.7-12.8 g/dl; MCV 68-74 fl; MCH 16.3-18.8 pg; Hb A2 4.1-5.1%; Hb F 0.7-3.8% (Ggamma 85-95%)
HEMATOLOGY IN HOMOZYGOTE(S)		Hb 10.6 g/dl; MCV 82 fl; MCH 29.4 pg; Hb A2 1.4%; Hb F 98.6%; Ggamma 95%
OCCURRENCE		Italians; Turks; see Tables IV, V, VI, IX, and X
HAPLOTYPE		IV [- O + - + + - +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None known
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Different alleles
OTHER INFORMATION		The original case was a codon 39 (C->T)/codon 8 (-AA) compound heterozygote. Hematological data from Ref. 3; the chromosome with the beta-thal allele carried four gamma-globin genes

REFERENCES
1.		Orkin, S.H. and Goff, S.C.: J. Biol. Chem., 256:9782, 1981.
2.		Orkin, S.H., Kazazian, H.H., Jr., Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G., and Giardina, P.J.V.: Nature, 296:627, 1982.
3.		Yang, K.G., Liu, J.Z., Kutlar, F., Kutlar, A., Altay, C., Gurgey, A., and Huisman, T.H.J.: Blood, 68:1394, 1986.

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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.