Hb Mulhacen	alpha123(H6)Ala->Ser

CONTACT		alpha1beta1 contact
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		A fast-moving variant, focusing like Hb A1c
CHROMATOGRAPHY		No clear separation of Hb X and Hb A was observed by cation exchange HPLC
STRUCTURE STUDIES		Not reported; identification by sequencing of amplified DNA
DNA ANALYSES		A GCC->TCC mutation at codon 123 of the alpha1 gene (an additional GCG->GCT polymorphism at codon 120)
FUNCTIONAL STUDIES		Not reported
STABILITY		Stable
OCCURRENCE		Found in an adult Spanish male
OTHER INFORMATION		Quantity in the heterozygote perhaps 13-14%

REFERENCES
1.		Kazanetz, E.G., Leonova, J.Ye., Wilson, J.B., McMillan, S.K., Walbrecht, M., de Pablos Gallego, J.Ma., and Huisman, T.H.J.: Hemoglobin, 19:1, 1995.

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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.