Objective: This study aimed to evaluate the efficacy of α-thalassemia gene testing as a part of an antenatal intervention program over a 10-year period.

Methods: All patients underwent α-thalassemia gene testing, which included the analysis of three types of deletions and mutations. Rare α-thalassemia gene testing was performed using Sanger sequencing, multiplex ligation-dependent probe amplification, and sequencing techniques. Prenatal diagnosis was performed in high-risk couples using chorionic villus sampling or amniocentesis.

Results: From 2010 to 2019, among the 91,852 patients examined, α-thalassemia mutations were identified in 41.78% of patients. The most frequent α gene mutation was--, followed by--. Two rare α-thalassemia gene mutations at -- and --, were also observed. A total of 2,235 high-risk couples were identified, of which 562 were affected, including three with the--/-- genotype and one with the--/-- genotype. Additionally, prenatal diagnosis revealed four cases of fetal anemia and/or mild edema, along with two cases of severe fetal edema. Chromosome and gene chip results were normal. Thalassemia gene testing showed an αα/αα genotype in four patients with anemia and/or mild edema, while two patients with severe fetal edema had one--/αα genotype and one--/-- genotype. Using the cut-off points of 74.6 fL and 24.4 pg as criteria for identifying α-thalassemia carriers and HbH disease, the detection rate of missed diagnoses in high-risk couples is consistent with national guidelines for standards, potentially saving 10,217,700 ¥.

Conclusion: Routine molecular testing for α-thalassemia in high-risk prenatal populations effectively prevented severe α-thalassemia births. Despite the high cost, the cutoff points proposed by this study suggest that implementing screening using a new parameter has the potential to reduce current expenses.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11183328PMC
http://dx.doi.org/10.3389/fgene.2024.1416047DOI Listing

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