ArticleJournal of hematopathology2026
Molecular profiling of thalassemia in Southeastern Romania.
Article in Journal of hematopathology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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8 authors.
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Abstract
backgroundThalassemias represent a major group of hereditary hemoglobin disorders with significant global health impact, yet molecular data from Eastern European populations, particularly from Romania, remain limited. PURPOSE: This study was aimed at comprehensively characterizing the molecular spectrum of α-, β-, and δβ-thalassemia in the southeastern part of Romania using an expanded panel of molecular diagnostic techniques.
methodsA total of 324 patients with suspected thalassemia were evaluated between 2017 and 2025. Molecular testing included multiplex PCR with reverse dot-blot hybridization, Sanger sequencing, MLPA for α-globin deletions/duplications, and multiplex gap-PCR for δβ fusion gene detection.
resultsPathogenic variants were identified in 137 individuals (42.28%). Of these, 21.89% had α-thalassemia, 66.42% had β-thalassemia, 10.21% had combined α and β defects, and 1.45% had Lepore Hb variants. The -α
conclusionsThe mutation distribution observed in southeastern Romania mirrors Mediterranean thalassemia patterns rather than those of Central or Northern Europe.
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