MUTATION - -(CAL); deletion of 32 kb involving both the alpha and the zeta genes (see Fig. 24)
 
AMINO ACID REPLACEMENT None
TYPE OF ALPHA-THAL alpha-Thal-1 [- -/]
MECHANISM Deletion of alpha2-, alpha1-, and zeta-globin genes results in the complete absence of functional alpha- and zeta-mRNAs
IDENTIFICATION Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S) Hb 13.1 g/dl; MCV 72 fl; MCH 23 pg
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE Found in a few Italian and Spanish families
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION With the -alpha(3.7 kb) deletion causing Hb H disease: Hb 9.5-10.7 g/dl; MCV 58-59 fl; MCV 16.4-19.0 pg; Hb A2 1.5-1.8%; Hb H 9%; alpha/beta ratio 0.5-0.65; splenomegaly; Heinz bodies
OTHER INFORMATION None
       
REFERENCES
1. Fortina, P., Dianzani, I., Serra, A., Gottardi, E., Saglio, G., Farinasso, L., Piga, A., Gabutti, V, and Camaschella, C.: Br. J. Haematol., 78:529, 1991.
2. Villegas, A., Sanchez, J., Gonzalez, F.A., Carreño, D.L., and Ropero, P.: Am. J. Hematol., 46:367, 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.