-.-(CI),.deletion.of.+27.kb.including.bo.html


MUTATION		- -(CI); deletion of +27 kb including both alpha genes (see Fig. 24)

AMINO ACID REPLACEMENT		None
TYPE OF ALPHA-THAL		alpha-Thal-1 [- -/]
MECHANISM		Deletion of both alpha-globin genes results in the absence of any alpha-mRNA
IDENTIFICATION		Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.3-13.6 g/dl; MCV 67-71 fl; MCH 20.5-22.0 pg; Hb A₂ 2.6-2.8%; no Hb H
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a few Spanish families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION		With the -alpha(3.7 kb) deletion in two young adults with Hb H disease: Hb 8.6-10.4 g/dl; MCV 64 fl; MCH 17-18 pg; Hb A₂ 1.2-1.4%; Hb H 6.8-8.6%; inclusion bodies
OTHER INFORMATION		None


REFERENCES
1.		Gonzalez-Redondo, J.M., Diaz-Chico, J.C., Malcorra-Azpiazu, J.J., Balda-Aguirre, M.I., and Huisman, T.H.J.: Br. J. Haematol., 70:459, 1988.

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.