Hb Sassari	alpha126(H9)Asp->His

CONTACT		alpha1beta1 contact
HEMATOLOGY		Mild erythrocytosis in the heterozygote
ELECTROPHORESIS		Hb X moves like Hb F at pH 8.9 and like Hb C on citrate agar at pH 6.1; it moves between Hb F and Hb G-Philadelphia on IEF
CHROMATOGRAPHY		Hb X and Hb A separate by anion and cation exchange HPLC
STRUCTURE STUDIES		Tryptic digestion; oxidation with performic acid; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation GAC->CAC; alpha2 or alpha1
FUNCTIONAL STUDIES		Not reported
STABILITY		Not reported
OCCURRENCE		Found in a family living in Northern Sardinia
OTHER INFORMATION		Quantity in the heterozygote 21-24%

REFERENCES
1.		Masala, B., Manca, L., Stangoni, A., Cuccuru, G.B., Wilson, J.B., Webber, B.B., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 11:373, 1987.

---

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.