First Report of a Coincidental Discovery of Hb Shimonoseki [54(E3)GlnArg, HBA2: c.164A>G (or HBA1)] in a Greek Family

被引：2
作者：
Theodoridou, Stamatia [1 ]
Delaki, Evangelia [2 ]
Skatharoudi, Evangelia [1 ]
Karakasidou, Olga [1 ]
Vyzantiadis, Timoleon-Achilleas [3 ]
Theodoridis, Theodoros [4 ]
Chalkia, Panagiota [1 ]
机构：
[1] Hippokrat Hosp Thessaloniki, Haemoglobinopathy Prevent Unit, Konstantinoupoleos 48, Thessaloniki 54649, Greece
[2] Laikon Gen Hosp Athens, Thalassaemia Natl Ctr Greece, Athens, Greece
[3] Aristotel Univ Thessaloniki, Sch Med, Dept Microbiol 1, Thessaloniki, Greece
[4] Aristotel Univ Thessaloniki, Dept Obstet & Gynaecol 1, Thessaloniki, Greece
来源：
HEMOGLOBIN | 2018年 / 42卷 / 04期
关键词：
Genetic counseling; Hb Shimonoseki; pre pregnancy counseling; pregnancy; thalassemia;
D O I：
10.1080/03630269.2018.1513368
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
The rare Hb Shimonoseki [54(E3)GlnArg, HBA2: c.164A>G (or HBA1)] has been reported in Western Japan. Hb Shimonoseki seems to be an innocuous variant and few published data are available. Heterozygous carriers have no clinical or hematological findings. The abnormal hemoglobin (Hb) was detected by high performance liquid chromatography (HPLC) and classic electrophoresis or capillary electrophoresis (CE), but confirmation of the variant is based on molecular studies. This is the first description of Hb Shimonoseki heterozygosity in a Greek family.
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收藏
页码：281 / 282
页数：2
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