| Literature DB >> 15768558 |
Philippe Lacan1, Mathieu Moreau, Michel Becchi, Isabelle Zanella-Cleon, Martine Aubry, Jean-Jacques Louis, Nicole Couprie, Alain Francina.
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).Entities:
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Year: 2005 PMID: 15768558
Source DB: PubMed Journal: Hemoglobin ISSN: 0363-0269 Impact factor: 0.849