The shortcut strategy for beta thalassemia prevention

Hematology Reports

Teerapat Seeratanachot¹  Narutchala Suwannakhon²  Khajohnsilp Pongsawatkul³  Torpong Sanguansermsri⁴  Khwanruedee Mahingsa⁴  Wanwipa Bumrungpakdee⁴  Arunee Pingyod⁴ 

[1]Discipline of Biochemistry, School of Medical Science, University of Phayao

[2]Discipline of Biology, School of Science, University of Phayao

[3]Division of Obstetrics and Gynecology, Phayao Hospital

[4]Thalassemia Unit, University of Phayao

关键词: Shortcut strategy;    Beta thalassemia prevention;    Hemoglobin E;    Hemoglobin A2.;   

DOI  :  10.4081/hr.2018.7530

学科分类：血液学

来源: Pagepress

【 摘 要 】

We propose antenatal blood tests using high-resolution DNA melting (HRM) analysis for beta thalassemia mutation detection after hemoglobin A2 estimation as a modified strategy for the identification of beta thalassemia at-risk couples. Antenatal blood samples of 1,115 couples were transferred from the antenatal care clinic. Hemoglobin A2 was quantified, and proportions ≥3.5% were further assessed for beta thalassemia mutation using HRM analysis. Twelve types of beta thalassemia mutations, including hemoglobin E, were identified. There were 23 couples who were detected as at-risk. All at-risk couples were identified within 7 working days after sample receipt. Prenatal diagnosis revealed 6 affected fetuses. One fetus was homozygous CD17 (AT), and five fetuses exhibited beta0 – thalassemia/ hemoglobin E disease. These results were consistent with the outcomes calculated using the Hardy-Weinberg equation. Antenatal blood tests for mutation detection using high-resolution DNA melting analysis after hemoglobin A2 estimation is a feasible laboratory method for the recruitment of couples with a fetus that is at risk for beta thalassemia. This modified strategy is cost-effective and may be beneficial for use in a beta thalassemia prevention program.

【 授权许可】

CC BY-NC