Table XV

TABLE XV.

Beta-Thalassemia Alleles in Black American, South American, and Argentinean Populations (number of chromosomes) (references in parentheses)

Black Americans Guadeloupe[1] Argentina

Allele In Beta-Thal Major
(1) In S(C)-Beta-Thal
(2-5) Total
(6)
(7)

-88, C->T 9 18 27 4

-87, C->A 2

-29, A->G 23 53 76 51

Codon 6, -A 1 1 1

Codon 24, T->A 3 3 4

Codon 30, G->C 1 1

IVS-I-1, G->T 8

IVS-I-2, T->C 1 1 5

IVS-I-5, G->A 12

IVS-I-5, G->C 15

IVS-I-5, G->T 2 2

IVS-I-6, T->C 5

IVS-I-110, G->A 19

Codon 39, C->T 40

Codon 61, A->T 1 1

IVS-II-1, G->A 1 1 19 3

IVS-II-745, C->G 2

IVS-II-848, C->A 1 1

IVS-II-849, A->G 3 3

IVS-II-849, A->C 2 2 7

Codons 106/107, +G 2 2

AATAAA->AACAAA 1 1 9

Hb Lepore 1 1 3 1

Unknown; others 2 3 5 0 4

TOTAL 42 86 128 129 85

	Black Americans	Guadeloupe[1]	Argentina
Allele	In Beta-Thal Major (1)	In S(C)-Beta-Thal (2-5)	Total	(6)	(7)
-88, C->T	9	18	27	4
-87, C->A					2
-29, A->G	23	53	76	51
Codon 6, -A	1		1		1
Codon 24, T->A	3		3	4
Codon 30, G->C	1		1
IVS-I-1, G->T					8
IVS-I-2, T->C		1	1	5
IVS-I-5, G->A				12
IVS-I-5, G->C				15
IVS-I-5, G->T		2	2
IVS-I-6, T->C					5
IVS-I-110, G->A					19
Codon 39, C->T					40
Codon 61, A->T	1		1
IVS-II-1, G->A		1	1	19	3
IVS-II-745, C->G					2
IVS-II-848, C->A	1		1
IVS-II-849, A->G		3	3
IVS-II-849, A->C		2	2	7
Codons 106/107, +G		2	2
AATAAA->AACAAA		1	1	9
Hb Lepore	1		1	3	1
Unknown; others	2	3	5	0	4
TOTAL	42	86	128	129	85

[1] Mainly Blacks; the influence of Mediterranean and Indian beta-thal chromosomes is evident from the presence of the IVS-I-5 (G->A; G->C) and the Lepore alleles.

1. Gonzalez-Redondo, J.M., Stoming, T.A., Lanclos, K.D., Gu, Y.C., Kutlar, A., Kutlar, F., Nakatsuji, T., Deng, B., Han, I.S., McKie, V.C., and Huisman, T.H.J.: Blood, 72:1007, 1988.

2. Gonzalez-Redondo, J.M., Kutlar, A., Kutlar, F., McKie, V.C., McKie, K.M., Baysal, E., and Huisman, T.H.J.: Am. J. Hematol., 38:9, 1991.

3. Padanilam, B.J. and Huisman, T.H.J.: Am. J. Hematol., 22:259, 1986.

4. Gonzalez-Redondo, J.M., Stoming, T.A., Kutlar, F., Kutlar, A., McKie, V.C., McKie, K.M., and Huisman, T.H.J.: Br. J. Hematol., 71:113, 1989.

5. Huisman, T.H.J.: Personal communication, 1997.

6. Romana, M., Keclard, L., Guillemin, G., Lavocat, E., Saint-Martin, C., Berchel, C., and Mérault, G.: Am. J. Hematol., 53:228, 1996.

7. Roldán, A., Gutiérrez, M., Cygler, A., Bonduel, M., Sciuccati, G., and Torres, A.F.: Am. J. Hematol., 54:179, 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.	Gonzalez-Redondo, J.M., Stoming, T.A., Lanclos, K.D., Gu, Y.C., Kutlar, A., Kutlar, F., Nakatsuji, T., Deng, B., Han, I.S., McKie, V.C., and Huisman, T.H.J.: Blood, 72:1007, 1988.
2.	Gonzalez-Redondo, J.M., Kutlar, A., Kutlar, F., McKie, V.C., McKie, K.M., Baysal, E., and Huisman, T.H.J.: Am. J. Hematol., 38:9, 1991.
3.	Padanilam, B.J. and Huisman, T.H.J.: Am. J. Hematol., 22:259, 1986.
4.	Gonzalez-Redondo, J.M., Stoming, T.A., Kutlar, F., Kutlar, A., McKie, V.C., McKie, K.M., and Huisman, T.H.J.: Br. J. Hematol., 71:113, 1989.
5.	Huisman, T.H.J.: Personal communication, 1997.
6.	Romana, M., Keclard, L., Guillemin, G., Lavocat, E., Saint-Martin, C., Berchel, C., and Mérault, G.: Am. J. Hematol., 53:228, 1996.
7.	Roldán, A., Gutiérrez, M., Cygler, A., Bonduel, M., Sciuccati, G., and Torres, A.F.: Am. J. Hematol., 54:179, 1997.