HBS WITH ELONGATED CHAINS RESULTING FROM SINGLE BASE PAIR MUTATIONS OR FRAMESHIFTS AT THE 3' END OF EXON 3 OR THE 5' END OF EXON 1 OF THE ALPHA2- OR THE BETA-GLOBIN GENE

Hb Name				Residues		(Presumed) Base Change
A.   At the Carboxy-Terminus
				138  139  140  141  142		CD 139 (-A)
Wayne		alpha139(HC1)		Ala-ASN-Thr-Val-Lys-		(alpha2 or alpha1)
				143  144  145  146
				Leu-Glu-Pro-Arg-COOH
				141  142  143  144  145  146  147		TAA->CAA
Constant Spring (or CS)		alpha142(H19)		Arg-GLN-Ala-Gly-Ala-Ser-Val-		CD 142 (alpha2)
(plus 31 residues)				148  149  150  151  152  153  154
				Ala-Val-Pro-Pro-Ala-Arg-Trp-
				155  156  157  158  159  160  161
				Ala-Ser-Gln-Arg-Ala-Leu-Leu-
				162  163  164  165  166  167  168
				Pro-Ser-Leu-His-Arg-Pro-Phe-
				169  170  171  172
				Leu-Val-Phe-Glu-COOH
Icaria		alpha142(H19)		Same as Hb Constant Spring		TAA->AAA
				except that residue 142 is LYS		CD 142 (alpha2)
Koya Dora		alpha142(H19)		Same as Hb Constant Spring		TAA->TCA
				except that residue 142 is SER		CD 142 (alpha2)
Seal Rock		alpha142(H19)		Same as Hb Constant Spring		TAA->GAA
				except that residue 142 is GLU		CD 142 (alpha2)
Paksé		alpha142(H19)		Same as Hb Constant Spring		TAA->TAT
				except that residue 142 is TYR		CD 142 (alpha2)
				142  143  144  145  146  147  148  149		CD 143 (-A)
Saverne		beta143(H21)		Ala-PRO-Ser-Ile-Thr-Lys-Leu-Ala
				150  151  152  153  154  155  156
				Phe-Leu-Leu-Ser-Asn-Phe-Tyr-COOH
				144  145  146  147  148  149  150		CDs 144-145
Cranston		beta144(HC1)		Lys-SER-Ile-Thr-Lys-Leu-Ala-		(+AA)
				151  152  153  154  155  156  157
				Phe-Leu-Leu-Ser-Asn-Phe-Tyr-COOH
				146  147  148  149  150		CD 147 (+AC)
Tak		beta147		His-THR-Lys-Leu-Ala-
				151  152  153  154  155
				Phe-Leu-Leu-Ser-Asn-
				156  157
				Phe-Tyr-COOH
B.   At the Amino-Terminus
				-1    +1    +2		+1 GTG->GAG
Thionville		alpha1(NA1)		Met-Glu-Leu-Ser		(alpha2 or alpha1)
				-1    +1    +2
Doha		beta1(NA1)		Met-Glu-His-Leu		+1 GTG->GAG
				-1    +1    +2
South Florida		beta1(NA1)		Met-Met-His-Leu-		+1 GTG->ATG
				-1    +1    +2
Marseille		beta2(NA2)		Met-Val-Pro-Leu-		+2 CAC->CCC

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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.