MUTATION Initiation codon (A->G); ATG->GTG of the alpha1 gene
 
AMINO ACID REPLACEMENT None
TYPE OF ALPHA-THAL alpha-Thal-2 [alphaalpha(T)/alphaalpha]
MECHANISM The mutation abolishes the function of the alpha1-globin gene
IDENTIFICATION Gene mapping; cloning; sequencing
HEMATOLOGY IN HETEROZYGOTE(S) alphaalpha(T)/alphaalpha: Hb 11.3-14.2 g/dl; MCV 75-77 fl; MCH 24-28 pg; Hb A2 2.8-3.0%
HEMATOLOGY IN HOMOZYGOTE(S) None
OCCURRENCE In a few Sardinian families
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION With an alpha-thal-1 (- -/) in a few patients with Hb H disease [- -/alphaalpha(T)]: Hb 9.5, 10.1 g/dl; MCV 52, 49 fl; MCH 16, 15 pg; Hb A2 1.4, 1.6%; Hb H not determined; inclusion bodies in 60-140 RBCs/1000 RBCs
OTHER INFORMATION The two patients were 10 and 12 years old; pallor and anemia; spleen was barely palpable; liver slightly en-larged; no acute hemolytic crises; mild Hb H disease
       
REFERENCES
1. Moi, P., Cash, F.E., Liebhaber, S.A., Cao, A., and Pirastu, M.: J. Clin. Invest., 80:1416, 1987.


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.