MUTATION Deletion of 13 nts from codons 51-55 of the alpha1 gene; 
50  51  52  53  54  55  56    50       56  
CAC·GGC·TCT·GCC·CAG·GTT·AAG-> CAC·___T·AAG·
AMINO ACID REPLACEMENT None
TYPE OF ALPHA-THAL alpha-Thal-2 [alphaalpha(T)/alphaalpha]
MECHANISM The deletion results in a frameshift, a new coding sequence with a stop codon at the new codon 63
IDENTIFICATION Amplification; SSCP (single strand confirmation polymorphism); sequencing
HEMATOLOGY IN HETEROZYGOTE(S) Hb 13.5-13.6 g/dl; MCV 77-82 fl; MCH 24.7-26.4 pg; reticulocytes <1.0%
HEMATOLOGY IN HOMOZYGOTE(S) Not observed
OCCURRENCE In a Spanish family
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) Not reported
OTHER INFORMATION None
       
REFERENCES
1. Alaya, S., Colomer, D., Aymerich, M., Abella, E., and Vives Corrons, J.Ll.: Personal communication, 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.