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Hemoglobin
international journal for hemoglobin research
Volume 15, 1991 - Issue 5
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Original Article

HB Port Huron [α56(E5)LYS → ÅG]: A New α Chain Variant

, , &
Pages 381-391 | Received 08 Mar 1991, Accepted 21 Jun 1991, Published online: 07 Jul 2009
 

Abstract

We have determined the structural abnormality of a putative Hb E detected in an African-American family with no apparent Asian ancestry. The tryptic peptide map performed by high performance liquid chromatography showed that the electrophoretic variant was indeed Hb E [β 26 (B8)Glu→Lys]. In addition, the tryptic map showed an abnormal peptide adjacent to the αT-6 peptide. The amino acid analysis and confirmatory restriction analysis of the DNA showed that a second mutation was also present, characterized by a substitution of arginine for lysine at residue 56 of the a chain. The variant is clinically silent and has been named Hb Port Huron for the city in Michigan where the family resides.

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