Table VII

TABLE VII.

Beta-Thalassemia Alleles in Some West European Populations (number of chromosomes) (references in parentheses)

Spain (4, and references quoted; also see map of Fig. 6)

Allele England
(1) France
(2)[1] Portugal
(3)[2] Alta Extremadura Toledo Extremadura Galicia Extremadura Andalusia East Huelva City

-90, C->T 2

Codon 5, -CT 2

Codon 6, -A 11 1 3

Codon 8, -AA 2 2 1

Codons 8/9, +G 1 3

Codon 11, -T 1 1

Codon 15, TGG->TGA 33

Codon 28, T->G 1

IVS-I-1, G->A 2 11 55 41 40 2 10 10

IVS-I-5, G->A 2 1

IVS-I-6, T->C 1 9 57 1 17 9 4 1

IVS-I-110, G->A 1 27 24 9 12 5 12

IVS-I-130, G->C 1

Codon 39, C->T 8 44 96 14 34 37 14 6

Codons 41/42, -TTCT 1

IVS-II-1, G->A 1

IVS-II-745, C->G 3 1 5 1 1

Codon 121, G->T 3

Codon 127, A->C 1

Unknown; others 3 10 0 0 16 0 4 1

TOTAL 23 105 280 69 133 59 45 18

				Spain (4, and references quoted; also see map of Fig. 6)
Allele	England (1)	France (2)[1]	Portugal (3)[2]	Alta Extremadura	Toledo Extremadura	Galicia Extremadura	Andalusia East	Huelva City
-90, C->T			2
Codon 5, -CT	2
Codon 6, -A			11		1	3
Codon 8, -AA				2	2	1
Codons 8/9, +G				1	3
Codon 11, -T				1	1
Codon 15, TGG->TGA			33
Codon 28, T->G	1
IVS-I-1, G->A	2	11	55	41	40	2	10	10
IVS-I-5, G->A					2	1
IVS-I-6, T->C	1	9	57	1	17	9	4	1
IVS-I-110, G->A	1	27	24	9	12	5	12
IVS-I-130, G->C			1
Codon 39, C->T	8	44	96	14	34	37	14	6
Codons 41/42, -TTCT	1
IVS-II-1, G->A		1
IVS-II-745, C->G		3	1		5	1	1
Codon 121, G->T	3
Codon 127, A->C	1
Unknown; others	3	10	0	0	16	0	4	1
TOTAL	23	105	280	69	133	59	45	18

[1] Many carriers were from North Africa, Spain, Italy, and Greece.
[2] For distribution of the common alleles see Fig. 7.

1. Hall, G.W., Barnetson, R.A., and Thein, S.L.: Br. J. Haematol., 82:548, 1992.

2. Milland, M., Berge-Lefranc, J.L., Lena, D., and Cartouzou, G.: Hemoglobin, 11:317, 1987.

3. Tamagnini, G.P., Gonçalves, P., Ribeiro, M.L.S., Kaeda, J., Kutlar, F., Baysal, E., and Huisman, T.H.J.: Hemoglobin, 17:31, 1993.

4. Ribeiro, M.L., Gonçalves, P., Cunha, E., Bento, C., Almeida, H., Pereira, J., Martin Núñez, G., and Tamagnini, G.P.: Hemoglobin, 21:261, 1997.

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.

1.	Hall, G.W., Barnetson, R.A., and Thein, S.L.: Br. J. Haematol., 82:548, 1992.
2.	Milland, M., Berge-Lefranc, J.L., Lena, D., and Cartouzou, G.: Hemoglobin, 11:317, 1987.
3.	Tamagnini, G.P., Gonçalves, P., Ribeiro, M.L.S., Kaeda, J., Kutlar, F., Baysal, E., and Huisman, T.H.J.: Hemoglobin, 17:31, 1993.
4.	Ribeiro, M.L., Gonçalves, P., Cunha, E., Bento, C., Almeida, H., Pereira, J., Martin Núñez, G., and Tamagnini, G.P.: Hemoglobin, 21:261, 1997.