Codon.94.(+TG),.GAC(Asp)-@GTGAC.html


MUTATION		Codon 94 (+TG); GAC(Asp)->GTGAC

AMINO ACID REPLACEMENT		Elongated beta chain (Hb Agnana)
TYPE OF BETA-THAL		Thalassemia intermedia
MECHANISM		The introduction of GT in codon 94 changes the reading frame with a termination of translation at the new codon 158 (TAA)
IDENTIFICATION		Amplification of the beta-globin gene; DNA sequencing; dot-blot analysis of amplified DNA with allele specific probes
HEMATOLOGY IN HETEROZYGOTE(S)		A 3-year-old girl from Southern Italy with thalassemia intermedia: Hb 6.6 g/dl; MCV 70 fl; Hb F 10.0%; Hb A₂ 2.2%; non-alpha/alpha 0.67; bone changes; splenomegaly; received occasional blood transfusions until age 6, and every 2-3 months thereafter; splenectomized at age 14 years and died at age of 27 years; parents are normal
HEMATOLOGY IN HOMOZYGOTE(S)		Not reported
OCCURRENCE		In an Italian family
HAPLOTYPE		Not reported
FOUND IN COMBINATION WITH ABNORMAL HB(S)		Not reported
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S)		Not reported
OTHER INFORMATION		The abnormal Hb was not detected by Hb and globin electrophoresis; stability tests were normal


REFERENCES
1.		Ristaldi, M.S., Pirastu, M., Murru, S., Casula, L., Loudianos, G., Cao, A., Sciarratta, G.V., Agosti, S., Parodi, M.I., Leoni, D., and Melesendi, C.: Blood, 75:1378, 1990.

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.