MUTATION		Initiation codon ATG->ATA
AMINO ACID REPLACEMENT		Met->Ile
TYPE OF BETA-THAL		beta°
MECHANISM		Defective mRNA translation; absence of beta chain production; initiation of translation changed to codons 21-22; termination at codons 60-61 (TGA)
IDENTIFICATION		Amplification of the beta-globin gene; denaturing gradient gel electrophoresis; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.5 g/dl; MCV 54.8 fl; MCH 17.3 pg; Hb A2 6.2%; Hb F 2.3%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In an Italian and a Swedish 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		A C->T polymorphism at codon 2 was also present

REFERENCES
1.		Saba, L., Meloni, A., Sardu, R., Travi, M., Primignani, P., Rosatelli, M.C., and Cao, A.: Hum. Mutat., 1:420, 1992.
2.		Landin, B., Rudolphi, O., and Ek, B.: Am. J. Hematol., 48:158, 1995.

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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.