Hb Sinai-Baltimore beta18(A15)Val->Gly
CONTACT Internal
HEMATOLOGY Mild anemia with marked microcytosis and hypochromia, likely because of an additional alpha-thal
ELECTROPHORESIS Hb X was detected by IEF; it moved just behind Hb A
CHROMATOGRAPHY Hb X and Hb A separate incompletely by cation exchange HPLC; reversed phase HPLC separated betaX from betaA and betaS
STRUCTURE STUDIES Tryptic digestion; reversed phase HPLC; amino acid analysis
DNA ANALYSES A GTG->GGG mutation at codon 18
STABILITY Slightly unstable
OCCURRENCE Found in a Black family
OTHER INFORMATION Quantity in the heterozygote 35-40%; the variant has been observed in combination with Hb S
1. Pobedimskaya, D.D., Molchanova, T.P., Amernick, R., Druskin, M.S., Webber, B.B., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 17:505, 1993.

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.