MUTATION		44 bp deletion (see Fig. 3)
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		Defective mRNA; no normal beta chain synthesized
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		None
OCCURRENCE		In a Greek and a Macedonian family
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The proband was a compound heterozygote for this deletion and the IVS-I-110 (G->A) mutation; severe transfusion-dependent beta-thal major (Ref. 1)
OTHER INFORMATION		None

REFERENCES
1.		Gonzalez-Redondo, J.M., Kattamis, C., and Huisman, T.H.J.: Hemoglobin, 13:377, 1989.
2.		Efremov, G.D.: Personal communication, 1997.

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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.