Codons.33-34.(-GTG),.GTG.GTC(Val-Val)-@G.html


MUTATION		Codons 33/34 (-GTG); GTG·GTC(Val-Val)->GTC·---(Val)

AMINO ACID REPLACEMENT		None, but a beta chain of 145 residues (-Val)
TYPE OF BETA-THAL		beta°
MECHANISM		Dominant beta-thal due to presence of a severely unstable abnormal variant (Hb Korea)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Found in an 8-year-old male with icterus and splenomegaly: Hb 7.9 g/dl; MCV 61 fl; MCH 17 pg; reticulocytes 4.0-7.5%; Hb A₂ 5.3%; Hb F 3.6%; basophilic stippling; parents are normal
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Korean patient
HAPLOTYPE		Not done
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		No abnormal Hb detected by electrophoresis or stability tests


REFERENCES
1.		Park, S.S., Barnetson, R., Kim, S.W., Weatherall, D.J., and Thein, S.L.: Br. J. Haematol., 78:581, 1991.
2.		Ohba, Y., Hattori, Y., Harano, T., Harano, K., Fukumaki, Y., Ideguchi, H., Cho, H.I., and Park, S.S.: Hemoglobin, 21:191, 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.