MUTATION		Initiation codon (-T); ATG->A-G of the alpha2 gene
AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM		Absence of translation because the initiation codon is abolished
IDENTIFICATION		Gene mapping; NcoI digests; amplification of the alpha2-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not reported
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		Found in a Vietnamese girl living in Canada
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH		The - -SEA deletion. The proband had Hb H dis-ease: Hb 9.0 g/dl; MCV 62 fl; Hb A2 0.9%; Hb F 1.7%; Hb H 13.6%; inclusion bodies; no need for transfusions; pallor; splenomegaly; the alpha-thal-1 determinant was identified as - -(SEA)
OTHER INFORMATION		None

REFERENCES
1.		Waye, J.S., Eng, B., Patterson, M., Chui, D.H.K., and Olivieri, N.F.: Hemoglobin, in press, 1997.

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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.