Hb broomhill [α1 or α2 114(GH2) pro > ala;HBA1 or HBA2:c.343C > G]: a rare Hb variant found in a diabetic chinese individual

Abstract

We report a clinically silent hemoglobin (Hb) variant, Hb Broomhill [α1 or α2 114(GH2) Pro > Ala;HBA1 or HBA2:c.343C > G] in a diabetic Chinese man. The Hb fractions of the subject were analyzed using various chromatographic and electrophoretic techniques. The glycated hemoglobin (HbA1c) levels measured using cation-exchange high-performance liquid chromatography (CE-HPLC) and the boronate affinity method showed nearly identical results. Analysis of the chromatogram of the CE-HPLC revealed an abnormal shoulder peak that appeared towards the end of the elution profile. Though the capillary electrophoresis method did not interpret the results, a manual examination revealed an abnormal shoulder on the HbA0 peak. Similarly, the electropherogram of the capillary zone electrophoresis also had an abnormal shoulder on the HbA peak. A missense mutation specific to the Hb Broomhill variant was found using Sanger sequencing.

Keywords:

• hemoglobin variant
• HbA1c
• cation-exchange high-performance liquid chromatography
• capillary electrophoresis
• Hb Broomhill

Acknowledgments

The authors thank the Sebia Shanghai representative office for providing technical support.

Disclosure statement

The authors report no conflicts of interest relevant to this article.

Additional information

Funding

This work is supported by the grant 2016YFC1305600, 2016YFC1305603 from the Major Chronic Non-communicable Disease Prevention and Control Research, National Key R&D Program of China.