Hb Abruzzo	beta143(H21)His->Arg

CONTACT		External; central cavity; 2,3-DPG binding site
HEMATOLOGY		Erythrocytosis in the heterozygote (PCV 0.45-0.69 l/l)
ELECTROPHORESIS		Hb X and Hb A can be separated at alkaline pH; it moves between Hb F and Hb S
CHROMATOGRAPHY		Hb X and Hb A can be separated by cation and anion exchange chromatography
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation CAC->CGC at codon 143
FUNCTION STUDIES		Increased oxygen affinity; normal Bohr effect; normal cooperativity in the presence of phosphates; cooperativity is reduced in the absence of phosphates
STABILITY		Normal (?)
OCCURRENCE		Found in a few Italian families
OTHER INFORMATION		Found in combination with beta-thal

REFERENCES
1.		Tentori, L., Carta Sorcini, M., and Brecella, C.; Clin. Chim. Acta, 38:258, 1972.
2.		Chiarioni, T., Nardi, E., Papa, G., Sasso, G.F., and Tentori, L.: Nouv. Rev. Fr. d'Haematol., 14:67, 1974.
3.		Chiancone, E., Norne, J.E., Bonaventura, J., Bonaventura, C., and Forsen, S.: Biochim. Biophys. Acta, 336:403, 1975.
4.		Bonaventura, C., Bonaventura, J., Amiconi, G., Tentori, L., Brunori, M., and Antonini, E.: J. Biol. Chem., 250:6273, 1975.
5.		Bonaventura, J., Bonaventura, C., Amiconi, G., Tentori, L., Brunori, M., and Antonini, E.: J. Biol. Chem., 250:6278, 1975.

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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.