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Hemoglobin. 2005;29(4):301-5.

A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)val-->Ala].

Author information

1
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.

Abstract

A new G(gamma) hemoglobin (Hb) variant, Hb F-Bron [gamma20(B2)Val-->Ala] on the first exon of the G(gamma)-globin gene is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities included hypochromia and microcytosis and were probably caused by an interaction with an alpha-thalassemia (thal) (3.7 kb) deletion in the heterozygous state.

PMID:
16370494
DOI:
10.1080/03630260500312725
[Indexed for MEDLINE]

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