Burnichon Nelly, Lacan Philippe, Becchi Michel, Zanella-Cleon Isabelle, Aubry Martine, Mowafy Mohammed, Couprie Nicole, Francina Alain
Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.
Hemoglobin. 2006;30(2):155-64. doi: 10.1080/03630260600642096.
A new hemoglobin (Hb) variant in the heterozygous state, Hb Al-Hammadi Riyadh [codon 75 (GAC-->GTC); alpha75(EF4)Asp-->Val (alpha2)] corresponding to an A-->T transversion on the second exon of the alpha2-globin gene, is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). The variant was found during a routine Hb analysis for anemia in a 16-month-old boy who lived in Riyadh, Kingdom of Saudi Arabia.
描述了一种杂合状态的新型血红蛋白(Hb)变体,即Hb Al-Hammadi利雅得型[密码子75(GAC→GTC);α75(EF4)天冬氨酸→缬氨酸(α2)],它对应于α2-珠蛋白基因第二外显子上的A→T颠换。该变体通过DNA测序和质谱分析(MS)进行了表征。该变体是在对一名居住在沙特阿拉伯王国利雅得的16个月大男孩进行贫血常规Hb分析时发现的。