First Report of a Coincidental Discovery of Hb Shimonoseki [α54(E3)Gln→Arg, HBA2: c.164A > G (or HBA1)] in a Greek Family.
| Title | First Report of a Coincidental Discovery of Hb Shimonoseki [α54(E3)Gln→Arg, HBA2: c.164A > G (or HBA1)] in a Greek Family. |
| Publication Type | Journal Article |
| Year of Publication | 2018 |
| Authors | Theodoridou, S., Delaki E., Skatharoudi E., Karakasidou O., Vyzantiadis T-A., Theodoridis T., & Chalkia P. |
| Journal | Hemoglobin |
| Volume | 42 |
| Issue | 4 |
| Pagination | 281-282 |
| Date Published | 2018 Jul |
| ISSN | 1532-432X |
| Keywords | alpha-Thalassemia, Chromatography, High Pressure Liquid, DNA Mutational Analysis, Electrophoresis, Capillary, Family, Female, Genetic Counseling, Genotype, Greece, Hemoglobins, Abnormal, Humans, Male, Mutation, Missense, Point Mutation, Pregnancy |
| Abstract | The rare Hb Shimonoseki [α54(E3)Gln→Arg, 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. |
| DOI | 10.1080/03630269.2018.1513368 |
| Alternate Journal | Hemoglobin |
| PubMed ID | 30821196 |
