MUTATION		IVS-I donor site (GAG·GTG·AGG->GAG·G- - - - -); alpha2-globin gene; also known as alpha-thal-2 (-5nt)
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM		This pentanucleotide deletion occurs within the splice junction and prevents splicing
IDENTIFICATION		Cloning; sequencing; amplification and sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Mild microcytosis and hypochromia
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In Mediterranean families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION		With various alpha-thal alleles
OTHER INFORMATION		None

REFERENCES
1.		Orkin, S.H., Goff, S.C., and Hechtman, R.L.: Proc. Natl. Acad. Sci. USA, 78:5041, 1981.
2.		Felber, B.K., Orkin, S.H., Hamer, D.H.: Cell, 29:895, 1982.

---

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.