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Premarital screening test results for beta thalassemia in Malatya Province

Mehmet Erten.




Abstract

Hemoglobinopathies are the most common monogenic hereditary diseases worldwide. After sickle-cell disease, beta thalassemia has the highest incidence. Premarital screening is performed to detect beta thalassemia carriers and prevent pathological births. We aimed to reveal the frequency of beta thalassemia carriers in Malatya. The study was retrospectively conducted with 4840 participants who applied for premarital screening to our laboratory. Samples were analyzed with Primus ultra² Resolution Variants Analyzer (USA) by conducting High Performance Liquid Chromatography (HPLC) method. HbA2 values over 3.5% were considered as beta thalassemia carrier. As a result of the premarital screening; 42 of 4840 individuals were evaluated as beta thalassemia carrier. This corresponds to a rate of 0.8%. Our results show that the rate of thalassemia carriers in our region is lower than our country and world. We suggest that it may be more cost-effective to perform examinations such as medical history and complete blood count in premarital screening where the prevalence is low, and then performing an HPLC scan when necessary.

Key words: Premarital screening, beta thalassemia, HPLC, thalassemia trait, HbA2






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