TABLE XI-a.   Beta-Thalassemia Alleles in the Populations of the Indian Subcontinent - Indian Studies (number of chromosomes) (references in parentheses)

India Gujarat N.W. Pakistan Punjab Sindhi Tamil Nadu Maharashtra Bangladesh
Allele (1) (2)[1] (3)[2] (3)[2] (3)[2] (4)[3] (3)[2] (3)[2] (3)[2] (4)[3] (3)[2]
-88, C->T 2       1 2          
+1, A->C         2 9          
Codon 5, -CT           2       1  
Codons 8/9, +G 20 15 8 73 19 19 12 2     1
Codon 15, TGG->TAG 5 1 3 11 1         8 1
Codon 16, -C         4 1          
Codon 30, G->C     4   1   1     1  
IVS-I-1, G->A                   2  
IVS-I-1, G->T 14 23 33 2 15 35 20     1  
IVS-I-5, G->C 23 30 81 59 54 36 14 48 7 27 6
IVS-I-128, T->G           1          
Codons 41/42, -TTCT 12 10 17 17 20 19 5 6 1   2
Codon 44, -C   1                  
Codons 47/48, +ATCT           1       1  
Codon 54/55, +A                   1  
IVS-II-1, G->A         1       1    
619 bp deletion 22 34 51   22 27 61 1   3  
Unknown; others 5 0 0 5 2 1 1 2 4 0 0
TOTAL 103 114 197 167 142 153 114 59 13 45 10

[1]   Patients with thalassemia major from a pediatric clinic in New Delhi.
[2]   Mainly beta-thal heterozygotes, both immigrants in the UK and living in the Indian subcontinent.
[3]   Patients with both thalassemia major and beta-thal heterozygotes.

1. Thein, S.L., Hesketh, C., Wallace, R.B., and Weatherall, D.J.: Br. J. Haematol., 70:225, 1988.
2. Baysal, E., Sharma, S., Wong, S.C., Jogessar, V.B., and Huisman, T.H.J.: Hemoglobin, 18:201, 1994.
3. Varawalla, N.Y., Old, J.M., Sarkar, R., Venkatesan, R., and Weatherall, D.J.: Br. J. Haematol., 78:242, 1991.
4. Garewal, G., Fearon, C.W., Warren, T.C., Marwaha, N., Marwaha, R.K., Mihadik, C., and Kazazian, H.H., Jr.: Br. J. Haematol., 86:372, 1994.

NOTE: Occasionally, mutations are incompletely or erroneously listed. For instance, this is the case for the -88 (C->T) mutation which is also designated as -88 or -88 (C->G). It may well be that a mutation other than -88 (C->T) is present in some of these patients.

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.