New alpha 2 globin chain variant with low oxygen affinity affecting the N-terminal residue and leading to N-acetylation [Hb Lyon-Bron alpha 1(NA1)Val --> Ac-Ala].

Abstract:

:Hemoglobin Lyon-Bron was found in two members of a family of German ascent presenting with a moderate normocytic anemia. In this alpha 2 globin variant, the N-terminal valine of the chain was replaced by an alanine. Electrospray mass spectrometry of the alpha chain showed that, as normally, the initiator methionine was cleaved during globin processing but that the N alpha-terminal group was totally acetylated. This resulted in structural modifications of a region crucial for oxygen binding. As a consequence, hemoglobin Lyon-Bron displayed both a reduced chloride effect and a decreased oxygen affinity, this last point explaining the apparent anemia.

journal_name

Am J Hematol

authors

Lacan P,Souillet G,Aubry M,Promé D,Richelme-David S,Kister J,Wajcman H,Francina A

doi

10.1002/ajh.10051

keywords:

subject

Has Abstract

pub_date

2002-03-01 00:00:00

pages

214-8

issue

3

eissn

0361-8609

issn

1096-8652

pii

10.1002/ajh.10051

journal_volume

69

pub_type

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