IVS-II-1.(G-@A),.html

MUTATION

IVS-II-1 (G->A);

104                 
AGG^GTGAG->AGG ATGAG

AMINO ACID REPLACEMENT

None

TYPE OF BETA-THAL

beta°

MECHANISM

This mutation abolishes the 5' splicing site

IDENTIFICATION

Cloning and amplification of the beta-globin gene; DNA sequencing

HEMATOLOGY IN HETEROZYGOTE(S)

From Ref. 6 (n=19): Hb 10.95±1.65; MCV 71.9±8.5 fl; MCH 20.3±1.8; Hb A₂ 4.9±0.7%; Hb F 5.75±4.55%

HEMATOLOGY IN HOMOZYGOTE(S)

Beta-thal major; transfusion dependent (see table for data for untransfused patients)

OCCURRENCE

Mediterranean populations; Blacks; Japanese; see Tables III through X; XIV and XV

HAPLOTYPE

Mostly type II

FOUND IN COMBINATION WITH ABNORMAL HB(S)

With Hb S; Hb E

FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)

With several alleles

OTHER INFORMATION

Some data for untransfused adult homozygotes (from Ref. 4)

Hb (g/dl)	Hb F (%)	Hb A₂ (%)	^Ggamma (%)
12.2	97.7	2.3	74.3
6.2	98.6	1.4	72.2
8.3	98.9	1.1	67.2
4.3	97.4	2.6	70.0
8.7	98.6	1.4	71.2


REFERENCES
1.		Treisman, R., Proudfoot, N.J., Shander, M., and Maniatis, T.: Cell, 29:903, 1982.
2.		Treisman, R., Orkin, S.H., and Maniatis, T.: Nature, 302:591, 1983.
3.		Wong, C., Antonarakis, S.E., Goff, S.C., Orkin, S.H., Boehm, C.D., and Kazazian, H.H., Jr.: Proc. Natl. Acad. Sci. USA, 83:6529, 1986.
4.		Dimovski, A.J., Adekile, A.D., Divoky, V., Baysal, E., and Huisman, T.H.J.: Am. J. Hematol., 45:51, 1994.
5.		Oppenheim, A., Yaari, A., Rund, D., Rachmilewitz, E.A., Nathan, D., Wong, C., Kazazian, H.H., Jr., and Miller, B.: Hum. Genet., 86:175, 1990.
6.		Öner, R., Altay, Ç., Gurgey, A., Aksoy, M., Kilinç, Y., Stoming, T.A., Reese, A.L., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 14:1, 1990.
7.		Hattori, Y., Yamamoto, Ku., Yamashiro, Y., Ohba, Y., Miyamura, S., Yamamoto, Ki., Matsuno, Y., Morishita, M., Miyaji, T., and Era, T.: Hemoglobin, 16:93, 1992.

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.