Literature DB >> 15768558

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

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).

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Year:  2005        PMID: 15768558

Source DB:  PubMed          Journal:  Hemoglobin        ISSN: 0363-0269            Impact factor:   0.849


  1 in total

1.  Five novel globin gene mutations identified in five Chinese families by next-generation sequencing.

Authors:  Jie Zhang; Meijuan Xie; Zhiyu Peng; Xiaoyan Zhou; Tingting Zhao; Chanchan Jin; Yuanlong Yan; Xiaohong Zeng; Dongmei Li; Yangjia Zhang; Jie Su; Na Feng; Jing He; Xiangmei Yao; Tao Lv; Baosheng Zhu
Journal:  Mol Genet Genomic Med       Date:  2021-10-28       Impact factor: 2.183

  1 in total

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