20.500.12556/RUL-182371 Klinična in genetska opredelitev anemije zaradi pomanjkanja železa pri otrocih magistrsko delo Clinical and genetic characterization of iron deficiency anemia in children M. Sc. thesis Namen raziskave je bil ugotoviti prisotnost genetskih sprememb pri otrocih in mladostnikih z mikrocitno anemijo, pogosto je bil postavljen klinični sum na beta talasemijo minor. V raziskavo smo vključili paciente, pri katerih diagnoza ni bila potrjena z družinsko anamnezo ali elektroforezo hemoglobina. Z genetsko analizo smo želeli potrditi sum na beta talasemijo oziroma postaviti diagnozo za druge redke oblike anemij. Sekvenciranje smo izvedli na platformi Illumina in dobljene podatke nato analizirali in interpretirali. Različice z nižjo pokritostjo smo dodatno preverili s sekvenciranjem po Sangerju. Genetsko analizo smo opravili pri 51 preiskovancih, s čimer smo prispevali k boljšemu razumevanju genetske osnove teh bolezni v slovenski populaciji. Vzročne različice smo odkrili pri 65 % preiskovancev. Najpogosteje so bile prisotne vzročne različice v genih HBB in TMPRSS6. Ker lahko dolgotrajna anemija v zgodnjem otroštvu povzroči trajne nevrološke, kognitivne in motorične okvare, je zgodnja in natančna diagnoza ključnega pomena. Genetska analiza je najbolj zanesljiva in hitra metoda za razlikovanje med različnimi tipi anemij in uporabo ustreznega zdravljenja. 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. anemija zaradi pomanjkanja železa anemija pri otrocih IRIDA beta talasemija mikrocitna anemija hipokromna anemija TMPRSS6 HBB sekvenciranje naslednje generacije (NGS) Illumina Sskvenciranje po Sangerju genetska diagnostika iron deficiency anemia pediatric anemia IRIDA beta-thalassemia microcytic anemia hypochromic anemia TMPRSS6HBB next-generation sequencing (NGS) Illumina Sanger sequencing genetic diagnostics true false false K. Šilc Slovenski jezik Angleški jezik Magistrsko delo/naloga 2026-05-08 12:37:48 2026-05-08 12:37:59 2026-05-11 12:07:09 0000-00-00 00:00:00 2026 0 Ljubljana 2026 Ljubljana 1 spletni vir (1 datoteka PDF (XIV, [103] str.)) 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.155.194-053.5/.6(043.2) 279473 277677315 57325.pdf 57325.pdf 1 824A28BB31510482FEDC341CE9579111 d9d6b2c85d6d0d59f5e62f7b06fc78b783e1726dce7b9802c6c61cf5b34e6b56 b12c9acf-4ac9-11f1-b0ab-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=233556 Biotehniška fakulteta 0 0 0