Prevalence and characterization of β-thalassemia minor in a premarital screening at a hereditary blood diseases center in Babylon, Iraq
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Abstract
Background: β-thalassemia is a significant hereditary hematological disorder that is highly prevalent in Iraq. Premarital screening is a critical preventive strategy for identifying couples at risk of having children with thalassemia major. This study evaluated the effectiveness of a premarital screening program in Babylon, Iraq.
Objectives: To determine the prevalence of β -thalassemia minor among couples with abnormal red cell indices and characterize the associated hematological parameters.
Materials and methods: A cross-sectional study was conducted from 2016 to 2019 on 960 individuals (480 couples) referred to the Hereditary Blood Diseases Center. Participants with a mean corpuscular volume (MCV) <80 fL and/or mean corpuscular hemoglobin (MCH) <27 pg underwent confirmatory testing via high-performance liquid chromatography (HPLC) for HbA2 quantification and serum ferritin analysis.
Results: The prevalence of β-thalassemia minor was 20.1% (193/960), with a significant sex disparity (males: 27.7%, females: 12.5%). Iron deficiency anemia (IDA) was identified in 46.6% of participants. The initial screening step using MCV/MCH cut-offs showed 100% sensitivity but 53.4% specificity, primarily because of IDA. Fifteen high-risk couples (1.7%) in which both partners were carriers were identified.
Conclusion: The two-stage premarital screening protocol demonstrated high sensitivity for detecting β-thalassemia carriers. The high prevalence of both the thalassemia trait and IDA in this young adult population underscores a substantial public health burden. The program successfully identified at-risk couples, enabling targeted genetic counseling and prenatal diagnosis to reduce the incidence of thalassemia major.
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