TYPE HPFH-6; Vietnamese (see Fig. 13)
 
CAUSE A 30 kb deletion with a 5' breakpoint which is ~3.5 kb 5' to the delta gene and a 3' breakpoint that is ~8 kb 3' to the breakpoint found in HPFH-3 and close to that of the German and Belgian Ggamma(Agammadeltabeta)-thalassemia types.
DETECTION By gene mapping with different probes and primers.
PHENOTYPE
DISTRIBUTION Found in two Vietnamese families.
       
REFERENCES
1. Motum, P.I., Hamilton, T.J., Lindeman, R., Le, H., and Trent, R.J.: Hum. Mutat., 2:179, 1993.


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.