Codon.10.(C-@A),.GCC(Ala)-@GCA(Ala).html


MUTATION		Codon 10 (C->A); GCC(Ala)->GCA(Ala)

AMINO ACID REPLACEMENT		See above
TYPE OF BETA-THAL		beta⁺
MECHANISM		This C->A mutation creates an alternate splicing site (TCTGCCGTTACT->TCTGCAG^TTACT) causing the synthesis of large quantities of abnormal mRNA
IDENTIFICATION		DGGE; sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Father of the proband: Hb 12.9 g/dl; MCV 74 fl; MCH 24.3 pg; Hb A₂ 6.4%; Hb F 0.6%
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In an Indian family
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		In combination with IVS-I-5 (G->C) causing severe, transfusion-dependent, thalassemia major
OTHER INFORMATION		None


REFERENCES
1.		Pawar, A.R. Colah, R.B., and Mohanty, D.: Blood, 89:3888, 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.