Table III

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

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

1. Rosatelli, M.C., Dozy, A., Faà, V., Meloni, A., Sardu, R., Saba, L., Kan, Y.W., and Cao, A.: Am. J. Hum. Genet., 50:422, 1992.

2. Schilirò, G., Di Gregorio, F., Samperi, P., Mirabile, E., Liang, R., Cürük, M.A., Ye, Z., and Huisman, T.H.J.: Am. J. Hematol., 48:5, 1995.

3. Maggio, A., Di Marzo, R., Giambona, A., Rends, M., Acuto, S., Lo Gioco, P., D'Alcamo, E., Di Trapani, F., Marino, M., Abate, I., Sammarco, P., and Kazazian, H.H.: Ann. N.Y. Acad. Sci., 612:67, 1990.

4. Magro, S., Santilli, E., Mancuso, R., Puzzonia, P., Consarino, C., Morgione, S., Galati, M.C., Fersini, G., Madonna, G., Brancati, C., Vadalà, P., and Molica, S.: Am. J. Hematol., 48:128, 1995.

5. Rosatelli, M.C., Tuveri, T., Scalas, M.T., Leoni, G.B., Sardu, R., Faà, V., Meloni, A., Pischedda, M.A., Dermurtas, M., Monni, G., and Cao, A.: Hum. Genet., 89:585, 1992.

6. Rady, M.S., Baffico, M., Khalifa, A.S., Heshmat, N.M., El-Moselhy, S., Sciarratta, G.V., Hussein, I.R., Temtamy, S.A., and Romeo, G.: Hemoglobin, 21:59, 1997.

7. Camaschella, C., Mazza, U., Roetto, A., Gottardi, E., Parziale, A., Travi, M., Fattore, S., Bacchiega, D., and Cappellini, M.D.: Am. J. Hematol., 48:82, 1995.

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.	Rosatelli, M.C., Dozy, A., Faà, V., Meloni, A., Sardu, R., Saba, L., Kan, Y.W., and Cao, A.: Am. J. Hum. Genet., 50:422, 1992.
2.	Schilirò, G., Di Gregorio, F., Samperi, P., Mirabile, E., Liang, R., Cürük, M.A., Ye, Z., and Huisman, T.H.J.: Am. J. Hematol., 48:5, 1995.
3.	Maggio, A., Di Marzo, R., Giambona, A., Rends, M., Acuto, S., Lo Gioco, P., D'Alcamo, E., Di Trapani, F., Marino, M., Abate, I., Sammarco, P., and Kazazian, H.H.: Ann. N.Y. Acad. Sci., 612:67, 1990.
4.	Magro, S., Santilli, E., Mancuso, R., Puzzonia, P., Consarino, C., Morgione, S., Galati, M.C., Fersini, G., Madonna, G., Brancati, C., Vadalà, P., and Molica, S.: Am. J. Hematol., 48:128, 1995.
5.	Rosatelli, M.C., Tuveri, T., Scalas, M.T., Leoni, G.B., Sardu, R., Faà, V., Meloni, A., Pischedda, M.A., Dermurtas, M., Monni, G., and Cao, A.: Hum. Genet., 89:585, 1992.
6.	Rady, M.S., Baffico, M., Khalifa, A.S., Heshmat, N.M., El-Moselhy, S., Sciarratta, G.V., Hussein, I.R., Temtamy, S.A., and Romeo, G.: Hemoglobin, 21:59, 1997.
7.	Camaschella, C., Mazza, U., Roetto, A., Gottardi, E., Parziale, A., Travi, M., Fattore, S., Bacchiega, D., and Cappellini, M.D.: Am. J. Hematol., 48:82, 1995.