Hb Fannin-Lubbock	beta119(GH2)Gly->Asp

CONTACT		External; alpha1beta1 contact
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A
CHROMATOGRAPHY		Hb X and Hb A separate on a DEAE-Sephadex column
STRUCTURE STUDIES		Tryptic digestion of AE-beta chain; separation of peptides by cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES		In a recent paper (Ref. 3) five Spanish families with Hb Fannin-Lubbock are described; in all instances two nucleotide changes were observed: GGC->GAC at codon 119 (Gly->Asp) and GTC->CTG at codon 111 (Val->Leu)
FUNCTION STUDIES		Normal
STABILITY		Unstable
OCCURRENCE		Found in members of two Mexican-American families, and in five Spanish families
OTHER INFORMATION		Quantity in heterozygotes 45-50%

REFERENCES
1.		Moo-Penn, W.F., Bechtel, K.C., Johnson, M.H., Jue, D.L., Therrell, B.L., Jr., Morrison, B.Y., and Schmidt, R.M.: Biochim. Biophys. Acta, 453:472, 1976.
2.		Schneider, R.G., Berkman, N.L., Brimhall, B., and Jones, R.T.: Biochim. Biophys. Acta, 453:478, 1976.
3.		Qin, W-B., Pobedimskaya, D.D., Molchanova, T.P., Wilson, J.B., Gu, L-H., de Pablos, J.Ma., and Huisman, T.H.J.: Hemoglobin, 18:297, 1994.

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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.