MUTATION - -(MC); a deletion of at least 46 kb involving both alpha genes and the zeta gene (see Fig. 24)
 
AMINO ACID REPLACEMENT None
TYPE OF ALPHA-THAL alpha-Thal-1 [- -/]
MECHANISM The deletion of the three functional genes results in the complete absence of alpha- and zeta-mRNAs
IDENTIFICATION Gene mapping
HEMATOLOGY IN HETEROZYGOTE(S) Found in an 18-year-old patient with Hb H disease and perhaps - -(MC)/alpha(T)alpha. Hb 15 g/dl; MCV 70 fl; MCH 22 pg; alpha/beta ratio 0.7; Hb H inclusion bodies. The father appears to have a similar condition (Hb 14.9 g/dl; MCV 74 fl; MCH 24 pg)
HEMATOLOGY IN HOMOZYGOTE(S) Not reported
OCCURRENCE In a British family
HAPLOTYPE Not determined
FOUND IN COMBINATION WITH ABNORMAL HB(S) Not reported
FOUND IN COMBINATION WITH alpha-THAL ALLELE(S) Not reported
OTHER INFORMATION None
       
REFERENCES
1. Vickers, M.A. and Higgs, D.R.: Br. J. Haematol., 72:471, 1989.


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.