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

BACKGROUND: 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.

METHODS: 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.

RESULTS: 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.

CONCLUSIONS: 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.