Αlpha-thalassemia genotypes in Vietnam: a report of 12,030 pregnant women and their husbands performing prenatal screening for alpha-thalassemia

  • Tran Danh Cuong Hanoi Medical University, Hanoi, Vietnam; National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam
  • Nguyen Phuong Ngoc Hanoi Medical University, Hanoi, Vietnam
  • Tran Van Anh Hanoi Medical University, Hanoi, Vietnam
  • Le Thi Minh Phuong University of Medicine and Pharmacy, Vietnam National University, Hanoi, Vietnam
  • Dang Anh Linh National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam
  • Ngo Toan Anh National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam
  • Nguyen Thi Bich Van Hanoi Medical University, Hanoi, Vietnam; National Hospital of Obstetrics and Gynecology, Hanoi, Vietnam
  • Dinh Thi Ngoc Mai Hanoi Medical University, Hanoi, Vietnam
  • Do Duc Huy Hanoi Medical University, Hanoi, Vietnam
  • Nguyen Thi Trang Hanoi Medical University, Hanoi, Vietnam https://orcid.org/0000-0002-8819-916X
Keywords: alpha-thalassemia, hemoglobin, mutation, prenatal diagnosis
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Abstract

BACKGROUND Αlpha (α)-thalassemia is a global health concern, and improving screening methods is crucial for disease prevention. This study aimed to assess α-thalassemia genotypes and evaluate the effectiveness of various thresholds for mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) in prenatal screening for α-thalassemia.

METHODS This cross-sectional study included pregnant women and their husbands who underwent prenatal screening for thalassemia at the National Hospital of Obstetrics and Gynecology, Vietnam from January 2012 to August 2021. Blood samples were collected and analyzed using the strip assay technique, which can detect 21 common mutations in the α-globin gene and 22 common mutations in the beta-globin gene.

RESULTS Of the 12,030 participants, 931 were identified as having α-thalassemia, with --SEA, -α3.7, and -α4.2 being the most common mutations. When examining different thresholds of MCV and MCH, MCV <85 fL and MCH <28 pg had a lower missing rate than MCV <80 fL and MCH <27 pg, respectively. MCH <28 pg showed the highest sensitivity in screening for α-thalassemia. MCV <85 fL showed the lowest positive predictive value (PPV). The combination of MCV <80 fL and MCH <27 pg showed the lowest sensitivity in screening for α-thalassemia but the highest PPV among all thresholds.

CONCLUSIONS Optimizing the screening methods for α-thalassemia is important for preventing and managing the disease in the community. These findings have important implications for thalassemia prevention and management programs and may contribute to reducing the burden of thalassemia in the global population.

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Published
2023-07-12
How to Cite
1.
Cuong TD, Ngoc NP, Anh TV, Phuong LTM, Linh DA, Anh NT, Van NTB, Mai DTN, Huy DD, Trang NT. Αlpha-thalassemia genotypes in Vietnam: a report of 12,030 pregnant women and their husbands performing prenatal screening for alpha-thalassemia. Med J Indones [Internet]. 2023Jul.12 [cited 2024May19];32(1):13-8. Available from: http://mji.ui.ac.id/journal/index.php/mji/article/view/6635
Section
Basic Medical Research