T-@G.at.codon.109.of.the.alpha2.gene,.CT.html


MUTATION		T->G at codon 109 of the alpha2 gene; CTG->CGG

AMINO ACID REPLACEMENT		Leu->Arg (Hb Suan Dok)
TYPE OF ALPHA-THAL		alpha-Thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM		The presence of this unstable Hb gives the phenoTYPE OF ALPHA-THAL-2
IDENTIFICATION		Protein analysis; amplification of the alpha2-globin gene; DNA sequencing
HEMATOLOGY IN HETEROZYGOTE(S)		Not available
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In a few Thai families
HAPLOTYPE		Not determined
FOUND IN COMBINATION		With alpha-thal-1 resulting in a mild Hb H disease; Hb 15.3 g/dl; MCV 85 fl; MCH 28 pg; Hb A₂ 0.8%; Hb H 15.0%
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		Low quantity of Hb X (<9%) is present in the heterozygote


REFERENCES
1.		Sanguansermsri, T., Matragoon, S., Changloah, L., and Flatz, G.: Hemoglobin, 3:161, 1979.
2.		Hundrieser, J., Sanguansermsri, T., Laig, M., Pape, M., Kühnau, W., and Flatz, G.: Hemoglobin, 14:69, 1990.

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.