Brunner-Agten Saskia, von Känel Thomas, Röthlisberger Benno, Broquet Charles, Huber Andreas R
a Institute of Laboratory Medicine , Canton Hospital Aarau , Aarau , Switzerland.
b Central Hospital Institutes , State Hospital of Valais , Sion , Switzerland.
Hemoglobin. 2017 Jan;41(1):1-5. doi: 10.1080/03630269.2017.1302467.
We describe an insertion variant on the α1-globin gene (HBA1) identified in a 49-year-old woman of Jurassian ancestry presenting with macrocytosis and erythrocytosis. The variant resulted in a peak of 15.5% of the total hemoglobin (Hb) on high performance liquid chromatography (HPLC). Stability and oxygen affinity testing revealed that the variant was stable and had an increased oxygen affinity. Molecular genetic testing detected the heterozygous sequence variant Hb Bakersfield [α50(CE8)His→0; Arg-Ser-His- inserted between 49(CE7) and 51(CE9) of α1; HBA1: c.151_152insGGAGCC (p.Ser50_His51insArgSer)] in the index patient, one of her sons, as well as in two of her grandchildren, who showed a similar hematological pattern.
我们描述了在一名患有大红细胞症和红细胞增多症的49岁侏罗纪血统女性中鉴定出的α1-珠蛋白基因（HBA1）插入变异。该变异在高效液相色谱（HPLC）上导致总血红蛋白（Hb）峰值达到15.5%。稳定性和氧亲和力测试表明该变异是稳定的且氧亲和力增加。分子遗传学检测在索引患者、她的一个儿子以及她的两个孙辈中检测到杂合序列变异Hb贝克斯菲尔德[α50(CE8)His→0；Arg-Ser-His插入到α1的49(CE7)和51(CE9)之间；HBA1: c.151_152insGGAGCC (p.Ser50_His51insArgSer)]，他们表现出相似的血液学模式。
