MUTATION		C->A at codon 110; alpha2 or alpha1 gene; GCC->GAC
AMINO ACID REPLACEMENT		Ala->Asp (Hb Petah Tikva)
TYPE OF ALPHA-THAL		alpha-Thal-2 [alpha(T)alpha/alphaalpha or alphaalpha(T)/alphaalpha]
MECHANISM		Unstable Hb; decreased level of alpha chains because of precipitation of the variant
IDENTIFICATION		Amino acid analysis
HEMATOLOGY IN HETEROZYGOTE(S)		Hb 12.3-14.6 g/dl; MCV 87-88 fl; Hb A2 1.8-2.1%
HEMATOLOGY IN HOMOZYGOTE(S)		Not observed
OCCURRENCE		In a few Iraqi Jewish families
HAPLOTYPE		Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION		With an unidentified alpha-thal-1; the two children, presumably with - -/alpha(T)alpha or - -/alphaalpha(T), had mild Hb H disease: Hb 10.7, 10.8 g/dl; MCV 74, 76 fl; Hb H <3%; inclusion bodies
OTHER INFORMATION		The mutation is not clearly identified

REFERENCES
1.		Honig, G.R., Shamsuddin, M., Zaizov, R., Steinherz, M., Solar, I., and Kirschmann, C.: Blood, 57:705, 1981.

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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.