Lacan Philippe, Moreau Mathieu, Becchi Michel, Zanella-Cleon Isabelle, Aubry Martine, Louis Jean-Jacques, Couprie Nicole, Francina Alain
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon Cedex 03, France.
Hemoglobin. 2005;29(1):69-75.
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).
描述了两种新的血红蛋白（Hb）变体：位于β-珠蛋白基因第一外显子上的Hb布雷姆-叙尔-梅尔[密码子9（TCT→TAT）；β9（A6）Ser→Tyr]和位于α2-珠蛋白基因第二外显子上的Hb帕西[密码子81（TCC→CCC）；α81（F2）Ser→Pro（α2）]。通过DNA测序和质谱分析（MS）对这两种变体进行了表征。血液学异常：仅在Hb帕西携带者中发现小红细胞症和低色素血症。在未与α地中海贫血缺失或突变相关联的情况下，81（F2）Pro突变可能诱发一种可能的α地中海贫血（thal）。
