MUTATION		3.5 kb deletion involving the alpha1 gene
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 [-alpha/]
MECHANISM		Not detailed
IDENTIFICATION		Gene mapping; the 3' breakpoint is between the BamHI and PvuII sites 3' to the alpha1 gne and the 5' breakpoint is between the 5' PstI and the alpha1 HindIII site
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 11.3 g/dl; MCV 77 fl; MCH 26 pg; Hb S 27.1%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In two Indians from Orissa State, India who are also Hb S heterozygotes
HAPLOTYPE		Not determined
FOUND IN COMBINATION		With Hb S
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		None

REFERENCES
1.		Kulozik, A.E., Kar, B.C., Serjeant, G.R., Serjeant, B.E., and Weatherall, D.J.: Blood, 71:467, 1988.

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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.