Hb Nigeria alpha81(F2)Ser->Cys
         
CONTACT External
HEMATOLOGY Unknown for a heterozygote; the subject with the variant had microcytosis, hypochromia, and a low level of Hb S (29%)
ELECTROPHORESIS The variants (alpha2Xbeta2 and alpha2Xbeta2S) move slightly faster than Hb A and Hb S at alkaline pH
CHROMATOGRAPHY Partial separation of the two major variants (alpha2Xbeta2 and alpha2Xbeta2S) from Hb A and Hb S on a DEAE-cellulose column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by column chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation TCC->TGC; alpha2 or alpha1
FUNCTIONAL STUDIES Normal oxygen affinity, Bohr effect, and cooperativity
STABILITY Normal
OCCURRENCE Observed in a Nigerian female with a compound heterozygosity for Hb S and Hb Nigeria, and an alpha-thal-2 homozygosity
OTHER INFORMATION The quantity of the alphaX containing Hb in this female was estimated between 40 and 48%
       
REFERENCES
1. Honig, G.R., Shamsuddin, M., Tremaine, L.M., Mason, R.G., Vida, L.N., Sarnwick, R., and Shahidi, N.T.: Blood, 52:113a (Suppl. 1), 1978.
2. Honig, G.R., Shamsuddin, M., Mason, R.G., Vida, L.N., Tremaine, L.M., Tarr, G.E., and Shahidi, N.T.: Blood, 55:131, 1980.


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.