Codons.38-39.(-C),.ACC.CAG(Thr.Gln)-@ACC.html


MUTATION		Codons 38/39 (-C); ACC·CAG(Thr·Gln)->ACC·-AG

AMINO ACID REPLACEMENT		None
TYPE OF BETA-THAL		beta°
MECHANISM		This frameshift results in a stop codon at codon 60 ter-minating translation
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis with allele specific probes; ASO
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 9.5-12.3 g/dl; MCV 60.5-75.0 fl; MCH 18-24 pg; Hb A₂ 5.1-6.0%; Hb F <1.0%
HEMATOLOGY IN HOMOZYGOTE(S)		None observed
OCCURRENCE		Czechoslovakian family (seven relatives)
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
OTHER INFORMATION		The allele was observed in combination with a nondele-tional HPFH characterized by an A->C change at position -110 (^Ggamma). The compound heterozygote and her two teenage HPFH heterozygous children have elevated Hb F (1-3%) with high ^Ggamma (93-97%)


REFERENCES
1.		Indrak, K., Indrakova, J., Kutlar, F., Pospisilova, D., Sulovska, I., Baysal, E., and Huisman, T.H.J.: Ann. Hematol., 63:111, 1991.

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.