MUTATION - -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes (see Fig. 24 for location)
 
AMINO ACID REPLACEMENT None
TYPE OF ALPHA-THAL alpha-Thal-1 [- -/]
MECHANISM The deletion of the two alpha-globin genes prevents the formation of functional alpha-mRNAs
IDENTIFICATION Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S) Hb 11.6-15.2 g/dl; MCV 61-71 fl; MCH 20-24 pg; Hb A2 1.0-2.4%; alpha/beta ratio 0.6-0.7
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE In three members of a Spanish family
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S) Not observed
OTHER INFORMATION No inclusion bodies
       
REFERENCES
1. Villegas, A., Sanchez, J., Ricard, P., Gonzalez, F.A., Del Potro, E., Armada, B., Carreno, D.L., and Espinos, D.: Hemoglobin, 18:29, 1994.


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.