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Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser--Tyr] and Hb Passy [alpha81(F2)Ser--Pro (alpha2)]

Authors :
Philippe, Lacan
Mathieu, Moreau
Michel, Becchi
Isabelle, Zanella-Cleon
Martine, Aubry
Jean-Jacques, Louis
Nicole, Couprie
Alain, Francina
Source :
Hemoglobin. 29(1)
Publication Year :
2005

Abstract

Two new hemoglobin (Hb) variants: Hb Brem-sur-Mer [codon 9 (TCT--TAT); beta9(A6)Ser--Tyr] on the first exon of the beta-globin gene and Hb Passy [codon 81 (TCC--CCC); alpha81(F2)Ser--Pro (alpha2)] on the second exon of the alpha2-globin gene, are described. The two variants were characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities: microcytosis and hypochromia were found only in the carrier of Hb Passy. In the absence of an association with an alpha-thalassemic deletion or mutation, the mutation 81(F2)Pro could induce a possible alpha-thalassemia (thal).

Details

ISSN :
03630269
Volume :
29
Issue :
1
Database :
OpenAIRE
Journal :
Hemoglobin
Accession number :
edsair.pmid..........fe2df245c5c96de58ba5ccde0200398c