TYPE Malay-1 Ggamma(Agammadeltabeta)°-Thal (see Fig. 16)
 
CAUSE The Malay-1 deletion begins close to the 3' end of the Ggamma gene and extends through the Agamma, delta, and beta genes to an unknown region. The deletion is very similar at the 5' end to the Cantonese and Thai (Agammadeltabeta)°-thal, namely about 1 kb 3' to the Ggamma gene.
DETECTION Gene mapping with different probes and enzymes.
PHENOTYPE The proband is a compound heterozygote for the Malay-1 (Agammadeltabeta)°-thal and Hb E, with a mild anemia; Hb 11.4 g/dl; MCV 74 fl; MCH 24 pg, Hb F was 46% (Ggamma chains only). The patient's son is a simple heterozygote for the Malay-1 deletion with the following hematology: Hb 12.8 g/dl; MCV 79 fl; MCH 26 pg; Hb A2 2.4%; Hb F 25%.
DISTRIBUTION Found in one Malay family.
       
REFERENCES
1. Trent, R.J., Jones, R.W., Clegg, J.B., Weatherall, D.J., Davidson, R., and Wood, W.G.: Br. J. Haematol., 57:279, 1984.


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.