Tato dizerta.ni prace se v.nuje objas.ovani genetickeho podkladu talasemii a abnormalnich hemoglobinovych variant v .eske a slovenske populaci. V na.i laborato.i se tomuto tematu v.nujeme ji. od roku 1991. V teto diserta.ni praci jsou prezentovany vysledky molekularn.-genetickych analyz talasemii a abnormalnich hemoglobinovych variant za obdobi od roku 2002 do roku 2015. Molekularni podstatu ?Ŕ-talasemie nebo ?Â?Ŕ-talasemie jsme odhalili u 383 jedinc. z 235 rodin. Molekularni podstatu ?ż-talasemie jsme odhalili u 98 jedinc. z 82 rodin. Abnormalni hemoglobinovou variantu jsme na molekularni urovni diagnostikovali u 52 jedinc.. Popsali jsme n.kolik novych mutaci v globinovych genech, v.etn. unikatniho epigenetickeho mechanizmu vzniku ?Ŕ-talasemie vedoucimu k zeslabeni exprese ?Ŕ-globinoveho genu v d.sledku inzerce funk.niho retrotranspozonu L1 do ?Ŕ- globinoveho genu. Na.e vysledky p.isp.ly k odhaleni molekularn.-geneticke podstaty studovanych nemoci v .eske republice i na Slovensku a umo.nily jejich v.asnou diagnostiku, ktera je nezbytna pro iniciaci vhodne le.by.The aim of this thesis was to investigate the genetic background of thalassemia and abnormal hemoglobin variants in the Czech and Slovak population. Our laboratories at University Hospital Olomouc and Faculty of Medicine and Dentistry Palacky University have been focused on this topic since 1991. In this dissertation thesis I present the results of molecular genetic analyses of thalassemias and abnormal hemoglobin variants obtained from 2002 to 2015. The molecular nature of â-thalassemia or äâ-thalassemia was uncovered in 383 individuals from 235 families. Molecular basis of á-thalassemia was characterized in 98 individuals from 82 families. Abnormal hemoglobin variants were diagnosed at the molecular level in 52 individuals. We have described several new mutations in the globin genes, including an insertion of a transposable L1 element into the â-globin gene resulting in a unique epigenetic etiology of â-thalassemia due to the silencing effect of repressive chromatin associated with retrotransposon insertion. Our results improve knowledge of molecular-genetic basis of studied diseases in the Czech Republic and Slovakia and enable their early diagnosis, which is necessary for initiation of appropriate therapy.