Hb Santa Ana beta88(F4)Leu->Pro
CONTACT Heme contact
HEMATOLOGY Moderately severe hemolytic anemia; reticulocytosis; Heinz bodies
ELECTROPHORESIS Hb X moves slower than Hb A at alkaline pH (Hb X appears as a smear between Hb A2 and Hb A); a free alpha chain band is also present
STRUCTURE STUDIES Fingerprinting; amino acid analysis
DNA ANALYSES A CTG->CCG mutation at codon 88 (Ref. 5)
OCCURRENCE Found in three members of a family living in California, in a 7-year-old male living in Hungary, in members of a family living in the USA, in a patient living in France, and in a Caucasian female from Brazil
OTHER INFORMATION Hb X occurred in some families as a de novo mutation; the Brazilian patient carried an additional mutation at codon 9 (TCT->TGT) (= Hb Porto Alegre); quantity in the heterozygote not definitely determined
1. Opfell, R.W., Lorkin, P.A., and Lehmann, H.: J. Med. Genet., 5:292, 1968.
2. Fairbanks, V.F., Opfell, R.W., and Burgert, E.M.: Am. J. Med., 46:344, 1969.
3. Hollan, S.R., Szelenyi, J.G., Miltenyi, M., Charlesworth, D., Lorkin, P.A., and Lehmann, H.: Haematologia, 4:141, 1970.
4. Biserte, G., Goudemand, M., Voisin, D., Charlesworth, D., Lorkin, P.A., and Lehmann, H.: Nouv. Rev. Fr. d'Hematol., 10:201, 1970.
5. Goncalves, M.S., Sonati, M.F., Kimura, M., Arruda, V.R., Costa, F.F., Nechtman, J.F., and Stoming, T.A.: Hemoglobin, 18:235, 1994.

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.