Codons.41-42.(-TTCT),.TTC.TTT(Phe-Phe)-@.html


MUTATION		Codons 41/42 (-TTCT); TTC·TTT(Phe-Phe)->--- -TT

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift results in a stop codon at the new codon 59 terminating translation
IDENTIFICATION		Cloning of the beta-globin gene; amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Typical for a beta°-thal heterozygote with modest anemia, microcytosis, and hypochromia
HEMATOLOGY IN HOMOZYGOTE(S)		Usually transfusion-dependent
OCCURRENCE		In Chinese and other East Asian populations; for frequency data see Tables XI through XIV
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		With Hb E
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		With several beta°- and beta⁺-thal alleles
OTHER INFORMATION		The original patient was a homozygote with Hb 2.0 g/dl; Hb A 0%; Hb F 96.3%; Hb A₂ 3.7%


REFERENCES
1.		Kimura, A., Matsunaga, E., Takihara, Y., Nakamura, T., and Takagi, Y.: J. Biol. Chem., 258:2748, 1983.
2.		Also reported in numerous clinical papers in hematology journals.

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.