Table VI

TABLE VI.

Beta-Thalassemia Alleles Detected in East European Populations (number of chromosomes) (references in parentheses)

Alleles Macedonia
(1-6) Croatia
(1-6) Bulgaria
(1-7) Albania
(8,9) Hungary
(10) Czechoslovakia
(11) Azerbaijan
(12) Russia
(13,14)

-101, C->T 1

-87, C->A 1

-87, C->G 2 4

-30, T->A 2 1 2

-28, A->C 1

+22, G->A 2 1

Initiation codon, ATG->ACG 1 1

Initiation codon, ATG->GTG 4

Codon 5, -CT 5 29 1 1

Codon 6, -A 7 18 6

Codon 8, -AA 2 5 5 21 24

Codons 8/9, +G 2 2

Codon 15, TGG->TGA 4

Codon 16, -C 2

Codon 29, C->T 2 3

Codon 30, G->C 1 1

IVS-I-1, G->A 15 5 45 4 3 2 9 42 2 7

IVS-I-2, T->C 4

IVS-I-5, G->C 1 1

IVS-I-5, G->T 1

IVS-I-6, T->C 31 2 24 6 10 11 2 7 1

IVS-I-110, G->A 79 12 79 22 25 36 5 20 4

IVS-I-128, T->G 1

IVS-I-130, G->C 2

Codons 36/37, -T 1 2

Codon 37, G->A 1 1

Codons 38/39, -C 7

Codon 39, C->T 5 2 89 10 13 18 10 2 2

Codon 44, -C 2 2 2 3

Codon 51, -C 1

Codons 82/83, -G 1 7 3

IVS-II-1, G->A 1 4 5 2 1 2 2 13 21 3

IVS-II-654, C->T 1

IVS-II-745, C->G 5 2 14 3 1 1 4 3

IVS-II-848, C->G 2 1

IVS-II-850, G->C 1

Codon 114, T->C 6

Codon 121, G->T 11

Codon 124, -A 1

Codon 125, +CCA 1

AATAAA->AATGAA 4 1 1 2

Hb Lepore 1

Unknown; others 5 6 19 13 1 12 3 2 0 1

TOTAL 167 44 342 66 58 88 32 93 99 62

1. Dimovski, A., Efremov, D.G., Jankovic, L., Juricic, D., Zisovski, N., Stojanovski, N., Nikolov, N., Petkov, G.T., Reese, A.L., Stoming, T.A., Efremov, G.D., and Huisman, T.H.J.: Hemoglobin, 14:15, 1990.

2. Efremov, G.D.: Haematologica, 75:32, 1990.

3. Efremov, G.D.: Hemoglobin, 16:531, 1992.

4. Efremov, G.D.: Personal communication, 1996.

5. Efremov, G.D., Juricic, D., Petkov, G.H., and Huisman, T.H.J.: Hematol. Revs., 6:83, 1992.

6. Petkov, G.H., Efremov, G.D., Efremov, D.G., Dimovski, A., Tchaicarova, P., Tchaicarov, R., Rogina, B., Agarwal, S., Kutlar, A., Kutlar, F., Reese, A.L., Stoming, T.A., and Huisman, T.H.J.: Hemoglobin, 14:25, 1990.

7. Kalaydjieva, L., Eigel, A., and Horst, J.: J. Med. Genet., 26:614, 1989.

8. Boletini, E., Svobodova, M., Divoky, V., Baysal, E., Cürük, M.A., Dimovski, A.J., Liang, R., Adekile, A.D., and Huisman, T.H.J.: Hum. Genet., 93:182, 1994.

9. De Angioletti, M., Lacerra, G., Romano, R., Hani, A., Anastasi, L., Boletini, E., and Carestia, C.: Abstract 149, 6th International Conference on Thalassaemia and the Haemoglobinopathies, Malta, April 1997.

10. Ringelhann, B., Szelenyi, J.G., Horanyi, M., Svobodova, M., Divoky, V., Indrak, K., Hollân, S., Marosi, A., Laub, M., and Huisman, T.H.J.: Hum. Genet., 92:385, 1993.

11. Indrak, K., Brabec, V., Indrakova, J., Chrobak, L., Sakalova, A., Jarosova, M., Cermak, J., Fei, Y-J., Kutlar, F., Gu, Y-C., Baysal, E., and Huisman, T.H.J.: Hum. Genet., 88:399, 1992.

12. Cürük, M.A., Yüregir, G.T., Asadov, C.D., Dadasova, T., Gu, L-H., Baysal, E., Gu, Y-C., Ribeiro, M.L.S., and Huisman, T.H.J.: Hum. Genet., 90:417, 1992.

13. Çürük, M.A., Molchanova, T.P., Postnikov, Yu.V., Pobedimskaya, D.D., Liang, R., Baysal, E., Kolodey, S., Smetanina, N.S., Tokarev, Yu.N., Rumyantsev, A.G., and Huisman, T.H.J.: Am. J. Hematol., 46:329, 1994.

14. Huisman, T.H.J.: Personal communication, 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.

Alleles	Macedonia (1-6)	Croatia (1-6)	Bulgaria (1-7)		Albania (8,9)		Hungary (10)	Czechoslovakia (11)	Azerbaijan (12)	Russia (13,14)
-101, C->T			1
-87, C->A		1
-87, C->G	2		4
-30, T->A	2		1						2
-28, A->C									1
+22, G->A			2						1
Initiation codon, ATG->ACG		1								1
Initiation codon, ATG->GTG							4
Codon 5, -CT	5		29		1	1
Codon 6, -A	7		18	6
Codon 8, -AA	2	5	5						21	24
Codons 8/9, +G			2						2
Codon 15, TGG->TGA										4
Codon 16, -C									2
Codon 29, C->T	2								3
Codon 30, G->C			1						1
IVS-I-1, G->A	15	5	45	4	3	2	9	42	2	7
IVS-I-2, T->C										4
IVS-I-5, G->C					1				1
IVS-I-5, G->T									1
IVS-I-6, T->C	31	2	24	6	10	11	2		7	1
IVS-I-110, G->A	79	12	79	22	25	36		5	20	4
IVS-I-128, T->G									1
IVS-I-130, G->C										2
Codons 36/37, -T			1						2
Codon 37, G->A		1				1
Codons 38/39, -C								7
Codon 39, C->T	5	2	89	10	13	18	10	2	2
Codon 44, -C			2		2	2			3
Codon 51, -C							1
Codons 82/83, -G		1						7	3
IVS-II-1, G->A	1	4	5	2	1	2	2	13	21	3
IVS-II-654, C->T										1
IVS-II-745, C->G	5	2	14	3		1	1	4	3
IVS-II-848, C->G	2	1
IVS-II-850, G->C		1
Codon 114, T->C										6
Codon 121, G->T								11
Codon 124, -A										1
Codon 125, +CCA										1
AATAAA->AATGAA	4		1		1	2
Hb Lepore										1
Unknown; others	5	6	19	13	1	12	3	2	0	1
TOTAL	167	44	342	66	58	88	32	93	99	62

1.	Dimovski, A., Efremov, D.G., Jankovic, L., Juricic, D., Zisovski, N., Stojanovski, N., Nikolov, N., Petkov, G.T., Reese, A.L., Stoming, T.A., Efremov, G.D., and Huisman, T.H.J.: Hemoglobin, 14:15, 1990.
2.	Efremov, G.D.: Haematologica, 75:32, 1990.
3.	Efremov, G.D.: Hemoglobin, 16:531, 1992.
4.	Efremov, G.D.: Personal communication, 1996.
5.	Efremov, G.D., Juricic, D., Petkov, G.H., and Huisman, T.H.J.: Hematol. Revs., 6:83, 1992.
6.	Petkov, G.H., Efremov, G.D., Efremov, D.G., Dimovski, A., Tchaicarova, P., Tchaicarov, R., Rogina, B., Agarwal, S., Kutlar, A., Kutlar, F., Reese, A.L., Stoming, T.A., and Huisman, T.H.J.: Hemoglobin, 14:25, 1990.
7.	Kalaydjieva, L., Eigel, A., and Horst, J.: J. Med. Genet., 26:614, 1989.
8.	Boletini, E., Svobodova, M., Divoky, V., Baysal, E., Cürük, M.A., Dimovski, A.J., Liang, R., Adekile, A.D., and Huisman, T.H.J.: Hum. Genet., 93:182, 1994.
9.	De Angioletti, M., Lacerra, G., Romano, R., Hani, A., Anastasi, L., Boletini, E., and Carestia, C.: Abstract 149, 6th International Conference on Thalassaemia and the Haemoglobinopathies, Malta, April 1997.
10.	Ringelhann, B., Szelenyi, J.G., Horanyi, M., Svobodova, M., Divoky, V., Indrak, K., Hollân, S., Marosi, A., Laub, M., and Huisman, T.H.J.: Hum. Genet., 92:385, 1993.
11.	Indrak, K., Brabec, V., Indrakova, J., Chrobak, L., Sakalova, A., Jarosova, M., Cermak, J., Fei, Y-J., Kutlar, F., Gu, Y-C., Baysal, E., and Huisman, T.H.J.: Hum. Genet., 88:399, 1992.
12.	Cürük, M.A., Yüregir, G.T., Asadov, C.D., Dadasova, T., Gu, L-H., Baysal, E., Gu, Y-C., Ribeiro, M.L.S., and Huisman, T.H.J.: Hum. Genet., 90:417, 1992.
13.	Çürük, M.A., Molchanova, T.P., Postnikov, Yu.V., Pobedimskaya, D.D., Liang, R., Baysal, E., Kolodey, S., Smetanina, N.S., Tokarev, Yu.N., Rumyantsev, A.G., and Huisman, T.H.J.: Am. J. Hematol., 46:329, 1994.
14.	Huisman, T.H.J.: Personal communication, 1997.