Hb Matera beta55(D6)Met->Lys
         
CONTACT alpha1beta1 contact
HEMATOLOGY Normal in the heterozygote; inclusion bodies
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X occupies a position like Hb S; excellent separation by IEF; no separation at acidic pH
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation ATG->AAG at codon 55
FUNCTION STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in four members of an Italian family
OTHER INFORMATION Quantity in the heterozygote 34-38%
       
REFERENCES
1. Sciarratta, G.V. and Ivaldi, G.: Hemoglobin, 14:79, 1990.


This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 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 written permission.