21 KB429 KB20 KB199420251998Andoljšek, Dušanštevilka:3/4letnik:325 stranistr. 91-95ISSN:1318-2951COBISSID:9127385URN:URN:NBN:SI:doc-BJCJ5QKJslZbornica zdravstvene negeObzornik zdravstvene negededne boleznidiagnostikahemofilijaHemofilije| clinical features and diagnosis| Hemophilias| klinika in opredelitev bolezni|Hemophilia is a group of hereditary diseases with different pathogenesis. Mutation of the gene located on chromosome X is their common feature. Consequently, protein synthesis, t.e. factor VIII and factor IX is disturbed. There may be a low protein level or an infunctional protein. Clinical featuresdepend only on the level of the functional protein and are the same infactor VIII and factor IX deficiency. laboratory investigation is necessary to differentiate both deficiencies. The structure of the factor IX and factor VIII gene has been recognised in the 70-ies and 80-ies. Since the prenatal diagnosis of hemophilia and carriers of the hemophilia can be recognisedHemofilije so skupine podedovanih bolezni z različno patogenezo. Skupna značilnost je mutacija gena n akromosomu X. Posledica genske mutacije je motena sinteza proteina, to je F VIII ali F IX. Mogoče je dvoje: majhna raven ali nastajanje neučinkovite beljakovine. Klinična slika je odvisna samo od ravni funkcijsko učinkovite beljakovine in je enaka pri pomanjkanju F VIII in FIX. Z laboratorijskimi preiskavami ugotovimo obliko in stopnjo bolezniTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaZbornica zdravstvene in babiške nege Slovenije - Zveza strokovnih društev medicinskih sester, babic in zdravstvenih tehnikov Slovenije