TABLE XI-b.   Beta-Thalassemia Alleles in the Populations of the Indian Subcontinent - Pakistani Studies (number of chromosomes) (Ref. 1)

Alleles Punjabi Pathan Sindhi Baluchi Mohajir Total
-88, C->T 1 2       3
+1, A->C 9 8     3 20
Codon 5, -CT 11 16   1 2 30
Codons 8/9, +G 146 103 29 14 23 315
Codon 15, TGG->TAG 14 13 5 9 8 49
Codon 16, -C 6 8 6 6 3 29
Codon 30, G->A 3 2   2 4 11
Codon 30, G->C 15 1 19 3 4 42
IVS-I-1, G->A 1   1     2
IVS-I-1, G->T 19 4 33 2 7 65
IVS-I-5, G->C 107 27 114 131 75 454
Codon 39, C->T   1       1
Codons 41/42, -TTCT 36 18 16 1 11 82
Codons 47/48, +ATCT 2         2
IVS-II-1, G->A 6 1   1 2 10
17 bp deletion   2       2
25 bp deletion     1     1
619 bp deletion 14 4 36 2 29 85
Unknown; others 0 0 0 0 0 0
TOTAL 390 210 260 172 171 1203

1. Ahmed, S., Petrou, M., and Saleem, M.: Br. J. Haematol., 94:476, 1996.


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.