MUTATION Deletion of 12 nts from codons 112-116 of the alpha2 gene; 
112 113 114 115 116 117  112    113
CAC·CTC·CCC·GCC·GAG·TTC->CA___G·TTC
AMINO ACID REPLACEMENT 
112 113 114 115 116 117  112         113             
His·Leu·Pro·Ala·Glu·Phe->Gln·-·-·-·-·Phe (Hb Lleida)
TYPE OF ALPHA-THAL alpha-Thal-2 [alpha(T)alpha/alphaalpha]
MECHANISM Hb Lleida is unstable and its presence results in a decreased level of alpha chains
IDENTIFICATION Sequencing; SSCP; gene mapping
HEMATOLOGY IN HETEROZYGOTE(S) Microcytosis; hypochromia; Hb 11.4 g/dl; MCV 72.7 fl; MCH 23.9 pg; reticulocytes 1.7%; Hb A2 2.1%
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 No abnormal Hb has been detected
       
REFERENCES
1. Ayala, S., Colomer, D., Pujades, A., Aymerich, M., and Vives Corrons, J.Ll.: Br. J. Haematol., 94:639, 1996.

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.