MUTATION		3.7 kb (type II) deletion involving the 3' part of the alpha2 gene and 5' part of the alpha1 gene
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 [-alpha/]
MECHANISM		See Fig. 22
IDENTIFICATION		Gene mapping; PCR methodology with probes 5' and 3' to the deletion; ApaI digestion
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In various Southeast Asian populations at rather low frequencies
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Higgs, D.R., Hill, A.V.S., Bowden, D.K., Weatherall, D.J., and Clegg, J.B.: Nucleic Acids Res., 12: 6965, 1984.

---

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.