Epidemiology of Hemoglobinopathies in the Huzhou Region, Zhejiang Province, Southeast China

Abstract

The aim of the present study was to report the frequency of thalassemia traits and other hemoglobinopathies in Huzhou City, Zhejiang Province, People’s Republic of China (PRC), and for the future management of hemoglobinopathies. A total of 8578 pregnant women in the Huzhou region was analyzed for thalassemia traits and other hemoglobinopathies from July 1 2012 to November 30 2015. Complete blood count (CBC), and hemoglobin (Hb) variant analyses were performed with automatic counters and capillary electrophoresis (CE). High resolution melting (HRM) analysis was applied for genetic diagnosis of thalassemia. The prevalence of patients with the α-thalassemia (α-thal) trait was 1.01% (87/8578). β-Thalassemia (β-thal) was carried by 112 women with a frequency of 1.3%. The carrier rate of thalassemia genes in the studied samples was nearly 2.32%. We excluded those without iron studies, with 159 cases as our sample, a total of 63/159 cases (39.6%) also had iron deficiencies. Moreover, Hb E (HBB: c.79G > A), and Hb D-Punjab (HBB: c.364G > C) were the most common Hb variants after thalassemia trait with frequencies of 0.16 and 0.06%, respectively. Only two Hb S (HBB: c.20A > T) carriers were detected in 20 months of screening time. Hb A_1c results could be confidently reported on all cases except the Hb D-Punjab and Hb E variants. This study provided a detailed prevalence and molecular characterization of thalassemia in the Huzhou region, and will contribute toward the development of prevention strategies and reducing excessive health care costs in this area, allowing better management of hemoglobinopathies.

Keywords:

• Capillary electrophoresis (CE)
• hemoglobin (Hb)
• variant
• high resolution melting analysis (HRM)
• iron deficiency
• thalassemia

Acknowledgements

We thank all the staff appointed to this project from the different centers for their technical support. Z-Y. D., G-S. S., S. Z. and P-Y. H. conceived, designed and planned the study. Z-Y. D., G-S. S. and S. Z. were involved in the acquisition of the data. Z-Y. D. and G-S. S. carried out the literature search and data extraction. Z-Y. D. conducted all statistical analyzes and drafted the manuscript. All author participated in the interpretation of the data and the critical review of the manuscript, and approved the version to be published.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Funding

This study was supported by grants to Mrs. Ping-Ya He from the Science and Technology Department of Zhejiang Province, the social development program researched by science and technology plan of public technology in Zhejiang Province in 2013 (2013C33219), People’s Republic of China.