MUTATION		Codon 44 (-C); TCC(Ser)->TC-
AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This deletion of C results in a frameshift with a nonsense codon at codon 60 (TGA) causing premature termination of translation
IDENTIFICATION		Cloning or amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Mild anemia with severe microcytosis; hypochromia
HEMATOLOGY IN HOMOZYGOTE(S)		Severe thalassemia major
OCCURRENCE		High frequency in Kurdish Jews; low frequencies in various populations around the Mediterranean Sea and the Middle East (see Tables III, VI, VIII, IX, and X)
HAPLOTYPE		I [+ O - - - - + +]
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Kinniburgh, A.J., Maquat, L.E., Schedl, T., Rachmilewitz, E., and Ross, J.: Nucleic Acids Res., 18: 5421, 1982.
2.		Rund, D., Cohen, T., Filon, D., Dowling, C.E., Warren, T.C., Barak, I., Rachmilewitz, E., Kazazian, H.H., Jr., and Oppenheim, A.: Proc. Natl. Acad. Sci. USA, 88:310, 1991.

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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.