VI-d.   The Deletional Alpha-Thalassemia Alleles Involving Both Alpha-Globin Genes (alpha-thal-1)

-(alpha)5.2; deletion of 5,201 bp (see Fig. 24)
- -(GEO); 8.5 kb deletion including the alpha2- and alpha1- globin genes (see Fig. 24)
- -(SPAN); deletion of 10.5-12.0 kb including both alpha-globin genes (see Fig. 24)
- -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes (see Fig. 24 for location)
- -(SEA); deletion of ~20 kb including both alpha-globin genes (see Fig. 24 for location)
- -(MED-I); deletion of ~17.5 kb including both alpha-globin genes (see Fig. 24 for location)
-(alpha)20.5; this 20.5 kb deletion involves the entire alpha2 and the 5' end of the alpha1 gene (see Fig. 24)
- -(MA); deletion of ~22 kb involving both alpha genes (see Fig. 24)
- -(SA); deletion of 22.8-23.7 kb involving both alpha-globin genes (see Fig. 24)
- -(BRIT); deletion of ~26 kb involving both alpha genes (see Fig. 24)
- -(CI); deletion of +27 kb including both alpha genes (see Fig. 24)
- -(CL); deletion of at least 40 kb involving the two alpha and the zeta genes (see Fig. 24)
- -(FIL); a deletion of 30-34 kb involving the alpha1, alpha2, and zeta genes (see Fig. 24)
- -(THAI); a deletion of 34-38 kb involving the alpha1, alpha2, and zeta genes (see Fig. 24)
- -(CAL); deletion of 32 kb involving both the alpha and the zeta genes (see Fig. 24)
- -(MED-II); a deletion of 26.5 kb involving the two alpha and the zeta genes (see Fig. 24)
- -(115 kb); a deletion of at least 115 kb removing the entire alpha gene complex
- -(80 kb); deletion of ~80 kb removing the entire alpha gene locus
- -(RT); a deletion of 36.5-40 kb removing the entire alpha gene locus (see Fig. 24)
- -(YEM); a deletion of +39 kb involving the two alpha genes (Fig. 24)
- -(MC); a deletion of at least 46 kb involving both alpha genes and the zeta gene (see Fig. 24)


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.