Hb Qinzhou [α1 78 (EF7) Asn→Lys (AAC>AAA); HBA1:c.237C>A]: a Novel α-Globin Variant in a Chinese Family.

Abstract

Many new variants are constantly detected by capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). Here, we described a novel α-globin gene mutation. The proband was a 46-year-old male who came to the hospital with his wife for pre-conception thalassemia screening. Hematological parameters were obtained from a complete blood count. Hb analysis was performed by CE and HPLC. Routine genetic analysis was carried out by Gap-polymerase chain reaction (Gap-PCR) and PCR and reverse dot-blot (PCR-RDB). Sanger sequencing was used to identify the hemoglobin variant. An abnormal Hb variant was observed at electrophoretic zone 5 and zone 1 on the CE program. HPLC showed a peak of abnormal Hb in the S window. No mutations were detected by Gap-PCR and PCR-RDB. Sanger sequencing revealed an AAC>AAA mutation at codon 78 of the α-globin gene [α1 78 (EF7) Asn→Lys (AAC> AAA); HBA1:c.237C>A]. The pedigree study demonstrated that the Hb variant was inherited from his mother. It is the first report about the variant, so we named it Hb Qinzhou for the place of origin of the proband. Hb Qinzhou presents a normal hematological phenotype.