Magic™ Anti-Hemoglobin monoclonal antibody, clone N88397

Background: Although many factors may interfere with hemoglobin (Hb)A1c measurement, Hb variants are among the most important factors. Methods: We tested the HbA1c levels of the patient, a 32 year old Manchu Chinese woman, during a routine health check. We used different methods, including high-performance liquid chromatography (HPLC) and capillary electrophoresis, to test specimens from the patient. Next, we tested the specimen further using polymerase chain reaction (PCR) and sequencing. Results: We discovered that our patient, who had an HbA1c value of 0, also has an Hb variant, Hb Long Island, which we found during the HbA1c analysis as part of her routine health check at the Health Management Center in the General Hospital of Tianjin Medical University, Tianjin, China. Also, we discovered that the exon 1 of beta gene contained transversion mutations, with 1 heterozygous and 1 homozygous variant (HBB:c.8A > C, 9T > C). These gene mutations resulted in an amino-acid change (His to Pro) and a decrease in HbA1c value. Conclusions: When there is no correlation between the clinical signs, glycemic status, and glycated Hb levels of the patient, the chromatogram of HbA1c should be carefully checked to detect possible variants that cause interference in the measurement.

Introduction Although mutations in the human beta-globin gene cluster are essentially point mutations, several large deletions have been described in recent years. Methods We have identified a novel 223 kb deletion in a Chinese patient by multiplex ligation-dependent probe amplification and characterized it by next-generation sequencing, Gap-PCR, and DNA sequence analysis. Results The deletion extends from the 3 ' UTR of the delta globin gene (HBD) to 215 kb downstream of the HBB. Compound heterozygous with the typical beta-thalassemia-CD41-42(-CTTT) mutation, the proband presented with microcytosis and hypochromic red cells, and required regulate transfusion. The patient was clinically diagnosed with thalassemia major. Conclusion Our study widens the mutation spectrum of beta-thalassemia. In addition, this case may spark future studies of the regulatory regions of the beta-globin gene cluster.