在一个意大利家庭中检测到一种罕见的β-珠蛋白无义突变[密码子59（AAG→TAG）]

Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family.

作者信息

Amato Antonio, Pia Cappabianca Maria, Ponzini Donatella, Di Biagio Paola, Colosimo Alessia, Guida Valentina, Mastropietro Fabrizio, Foglietta Enrica, Grisanti Paola, Rinaldi Silvana, Dallapiccola Bruno, Bianco Ida

机构信息

Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia.

出版信息

Hemoglobin. 2006;30(3):405-7. doi: 10.1080/03630260600755948.

DOI:10.1080/03630260600755948

PMID:16840234

Abstract

In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a beta0-thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two beta-thal carriers of the beta-globin nonsense mutation [codon 59 (AAG-->TAG)] (the proband and his father) showed the hematological picture of a beta0-thal trait: the only hematological difference between the two beta-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).

摘要

在本研究中，我们报告了来自意大利中部一个家族的血液学和分子学研究结果，该家族中一名33岁的男性先证者表现出与较高胎儿血红蛋白（Hb F）水平相关的β0地中海贫血（thal）特征。通过血液学分析对先证者及其家族成员（父母和一个妹妹）进行了调查。两名携带β珠蛋白无义突变[密码子59（AAG→TAG）]的β地中海贫血携带者（先证者及其父亲）呈现出β0地中海贫血特征的血液学表现：这两名β地中海贫血携带者之间唯一的血液学差异在于Hb F水平（先证者为3.3%，其父亲为1%）。