Avtor/Urednik		Andoljšek, Dušan
Naslov		Hemofilije: klinika in opredelitev bolezni
Prevedeni naslov		Hemophilias: clinical features and diagnosis
Tip		članek
Vir		Obz Zdrav Nege
Vol. in št.		Letnik 32, št. 3-4
Leto izdaje		1998
Obseg		str. 91-5
Jezik		slo
Abstrakt		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 features depend only on the level of the functional protein and are the same in factor 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 recognised.
Izvleček		Hemofilije 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 bolezni.
Deskriptorji		HEMOPHILIA CHRISTMAS DISEASE