Hb Maputo	beta47(CD6)Asp->Tyr

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH (Hb X moves in the position of Hb S) but not at acidic pH
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion; reversed phase HPLC; fingerprinting; amino acid analysis; LAP
DNA ANALYSES		Not reported; presumed mutation GAT->TAT at codon 47
FUNCTION STUDIES		Normal oxygen affinity and cooperativity
STABILITY		Normal
OCCURRENCE		Found in members of a family from Mozambique and in two Caucasian families in the USA
OTHER INFORMATION		Quantity in the heterozygote 30.1%; also found in combination with Hb S

REFERENCES
1.		Marinucci, M., Boissel, J.P., Massa, A., Wajcman, H., Tentori, L., and Labie, D.: Hemoglobin, 7:423, 1983.
2.		Moo-Penn, W.F., Hine, T.K., Johnson, M.H., Jue, D.L., Piersma, H., Therrell, B., Jr., and Chu, A.: Hemoglobin, 15:97, 1991.

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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.