MUTATION		Codons 120/121 (+A); AAA·GAA(Lys-Glu)->AAA·A·GAA
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta° (mild dominant TYPE OF BETA-THAL)
MECHANISM		Formation of an abnormal beta-mRNA with a new stop codon at codon 139 (TAA)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 13.2 g/dl; MCV 60.5 fl; MCH 18.7 pg; reticulocytes 1.4%; Hb A2 4.7-4.9%; Hb F 1.3-4.2%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Filipino family (father and child)
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not observed
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not observed
OTHER INFORMATION		None

REFERENCES
1.		Hopmeier, P., Krugluger, W., Gu, L-H., Smetanina, N.S., and Huisman, T.H.J.: Blood, 87:5393, 1996.

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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.