MUTATION		2.7 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 deletion is between the BglII site (5' to alpha1) and the EcoRI site (3' to alpha1)
		[Figure not yet available on-line.]
HEMATOLOGY IN HETEROZYGOTE(S)		Not observed
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Chinese from Nanning, PRC
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		The proband has the - -(SEA)/-alpha(2.7 kb) combination; this type of Hb H disease results in a moderate anemia (Hb 7-9 g/dl; Hb H 10.2%) with striking microcytosis and hypochromia
OTHER INFORMATION		None

REFERENCES
1.		Zhao, J-B., Zhao, L., Fei, Y-J., Liu, J-C., and Huisman, T.H.J.: Am. J. Hematol., 38:248, 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.