Hb C	beta6(A3)Glu->Lys

CONTACT		External
HEMATOLOGY		Target cells in peripheral smears; mild anemia and occasionally, intraerythrocytic crystals in RBC in homozygotes
ELECTROPHORESIS		Hb C and Hb A readily separate at both alkaline and acid pH; Hb X moves to the position of Hb A2 on cellulose acetate and starch gel
CHROMATOGRAPHY		Hb C and Hb A can be separated by cation and anion exchange chromatography
STRUCTURE STUDIES		Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; Edman degradation
DNA ANALYSES		A GAG->AAG mutation at codon 6
FUNCTION STUDIES		Normal
STABILITY		Normal
OCCURRENCE		Found predominantly in Blacks but also reported in many other racial and/or ethnic groups
OTHER INFORMATION		Quantity in heterozygotes 25-45%; homozygosity is a mild condition but SC disease is a clinically significant hemoglobinopathy; Hb C is the second most studied Hb variant; for references see the literature quoted for Hb S [beta6(A3) Glu->Val]

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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.