The aim of this study was to identify genetic changes in children and adolescents with microcytic anemia, where there was frequently a clinical suspicion of beta-thalasemia minor. The study included patients, whose diagnosis had not yet been confirmed by a family history or hemoglobin electrophoresis. Through genetic analysis, we aimed to confirm suspected beta-thalassemia or establish a diagnosis for other rare forms of anemia. Sequencing was performed using the Illumina platform, followed by data analysis and interpretation. Variants with lower coverage were additionally verified and confirmed using Sanger sequencing. The genetic analysis was conducted on 51 subjects, contributing to a better understanding of the genetic basis of these diseases in the Slovenian population. Causative variants were identified in 65 % of the participants. The most frequent variants were found in the HBB and TMPRSS6 genes. Since prolonged anemia in early childhood can lead to permanent neurological, cognitive, and motor developmental impairments, early and accurate diagnosis is crucial. Genetic analysis proved to be the most reliable and rapid method for differentiating between various types of anemia and determining appropriate treatment.
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