TABLE III.   Beta-Thalassemia Alleles Among Italians (number of chromosomes) (references in parentheses)

Allele Sardinia
(1)
Sicily
(2,3,5)
Calabria
(4,5)
Basilicata
(5)
Puglia
(5)
Campania
(5)
Lazio
(5)
Po Delta
(5)
Genova
(6)
Others
(5,7)
Total
(1-7)
%
-101, C->T   1 1   1 1   1   10 15 0.25
-92, C->T   3                 3 0.05
-87, C->G 7 26 10   1 2   3 5 8 62 1.04
-87, C->T         1           1 0.02
Codon 1, -G 3 1                 4 0.07
Codon 5, -CT   1             1   2 0.03
Codon 6, -A 66 15 12   1   4   2 13 113 1.90
Codon 8, -AA   1               2 3 0.05
Codon 30, G->C   7                 7 0.11
IVS-I-1, G->A 1 107 28 5 44 14 3 2 6 27 237 3.99
IVS-I-2, T->A   14               1 15 0.25
IVS-I-5, G->A     2             1 3 0.05
IVS-I-5, G->C   6               1 7 0.11
IVS-I-6, T->C 3 208 60 1 36 14 2 2 11 111 448 7.54
IVS-I-110, G->A 15 307 81 5 84 24 6 20 9 115 666 11.21
IVS-I-116, T->G   3                 3 0.05
IVS-I-130, G->C   2       3         5 0.08
Codon 35, -C     1               1 0.02
Codon 39, C->T 2872 461 112 20 111 79 25 48 20 222 3970 66.84
Codon 44, -C     1   4   1     1 7 0.11
Codon 76, -C 20 2       1       1 24 0.40
IVS-II-1, G->A 1 21 14   13 8 3 2   26 88 1.48
IVS-II-745, C->G 12 80 16   16 13 6   3 21 166 2.78
IVS-II-844, C->G                   1 1 0.02
IVS-II-850, -G             1       1 0.02
Codon 126, T->G   1                 1 0.02
Hb Lepore   5       3 1     3 12 0.20
Unknown; others 0 27 24 0 6 0 0 0 3 14 74 1.24
TOTAL 3000 1299 362 31 318 162 52 78 60 578 5940  

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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.