-114.(C-@T).Agamma,.the.Georgia.nd-HPFH.html


MUTATION		-114 (C->T) ^Agamma; the Georgia nd-HPFH

IDENTIFICATION		Amplification and DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Normal: Hb F 4.7, 4.8%; ^Ggamma 10.3, 10.8%; ^Agamma 87.7, 89.2%; Hb A₂ 2.65, 2.2%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a Black family from Georgia (USA)
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		None
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		None
MECHANISM		See -114 (C->G and C->T) ^Ggamma


REFERENCES
1.		Öner, R., Kutlar, F., Gu, L-H., and Huisman, T.H.J.: Blood, 77:1124, 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.