血红蛋白卡拉瓦索斯[HBA2：c.275T > A；p.Leu92His]：一种新型α链血红蛋白变异体。
Hb Kalavasos [HBA2: c.275T > A; p.Leu92His]: a Novel α Chain Hemoglobin Variant.
作者信息
Kelany Mai, Pickersgill John S, Al Hasso Namir, Viljoen Adie, van Bijlen Nancy, Besser Martin W
机构信息
a Department of Haematology , Cambridge University Hospital , Cambridgeshire , Cambridge , UK.
b Department of Biochemistry , The Pathology Partnership Hinchingbrooke Hospital, Huntingdon , Cambridgeshire , UK.
出版信息
Hemoglobin. 2016 Sep;40(5):345-348. doi: 10.1080/03630269.2016.1209214. Epub 2016 Sep 14.
We present a case of a novel pathogenic variant, Hb Kalavasos [α91(FG3)Leu→His (α2); HBA2: c.275T > A; p.Leu92His (NM_000517.4)]; this codon was previously numbered 91 on the α2-globin gene that was discovered following routine Hb A testing on a 65-year-old female of Cypriot origin. The band, seen by high performance liquid chromatography (HPLC) but not capillary zone electrophoresis (CZE), was confirmed as a hitherto undescribed a chain variant, that we have named Hb Kalavasos for the Cypriot village of family origin of the proband.
我们报告了一例新型致病变异，即Hb卡拉瓦索斯[α91（FG3）亮氨酸→组氨酸（α2）；HBA2：c.275T>A；p.Leu92His（NM_000517.4）]；该密码子在α2-珠蛋白基因上先前编号为91，是在对一名65岁塞浦路斯裔女性进行常规Hb A检测后发现的。通过高效液相色谱法（HPLC）而非毛细管区带电泳（CZE）观察到的条带被确认为一种迄今未描述的α链变异体，我们以先证者家族起源的塞浦路斯村庄命名为Hb卡拉瓦索斯。
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