期刊
HEMOGLOBIN
卷 46, 期 4, 页码 240-244出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/03630269.2022.2118605
关键词
Capillary electrophoresis (CE); Hb A(1c); high oxygen affinity hemoglobin (Hb) variant; new beta-globin variant
资金
- Italian Ministry of Health
We report a novel mutation in the beta-globin gene of a Sicilian woman living in Italy, resulting in a hemoglobin variant. The mutation does not affect the patient's clinical presentation and erythrocyte parameters.
We report a novel mutation on the beta-globin gene in a 68-year-old woman of Sicilian origin living in Alessandria, Italy. This mutation produces a hemoglobin (Hb) variant of Hb A that was detected by the capillary electrophoresis (CE) method during measurement of Hb A(1c). The variant Hb did not separate from Hb A using different high performance liquid chromatography (HPLC) instruments. Direct DNA sequencing revealed a G>T transversion at codon 37 and subsequent substitution of a tryptophan residue for a leucine residue. The new Hb variant was named Hb Alessandria [beta 37(C3)Trp -> Leu; HBB: c.113G>T]. The p50 value was slightly decreased while the stability test at 37 degrees C in isopropyl alcohol and the main erythrocyte parameters were normal. Overall, the patient appeared clinically normal.
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