MUTATION		Codons 38/39 (-CC); ACC·CAG(Thr-Glu)->A--·CAG
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Formation of an abnormal beta-mRNA with a stop codon a the new codon 42
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a Belgian family
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Heusterspreute, M., Derclaye, I., Gala, J-L., Van Geet, C., Ferrant, A., Malchaire, Y., Thonnard, J., Vaerman, J-L., and Philippe, M.: Hum. Genet., 98:77, 1996.

---

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.