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Title: Hemofilije : klinika in opredelitev bolezni Authors: ID Andoljšek, Dušan (Author) Files: This document has no files. This document may have a physical copy in the library of the organization, check the status via COBISS.  Language: Slovenian Typology: 1.04 - Professional Article Organization: ZZBNS - ZSDMSBZTS - Nurses and Midwives Association of Slovenia Abstract: 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. Publication date: 01.01.1998 Year of publishing: 1998 Number of pages: str. 91-95 Numbering: Letn. 32, št. 3/4 PID: 20.500.12556/DiRROS-25985  UDC: 616.1 ISSN on article: 1318-2951 COBISS.SI-ID: 9127385  Note: BSDOCID38096; Publication date in DiRROS: 28.01.2026 Views: 48 Downloads: 0 Metadata:    Cite this work Plain text BibTeX EndNote XML EndNote/Refer RIS ABNT ACM Ref AMA APA Chicago 17th Author-Date Harvard IEEE ISO 690 MLA Vancouver : Copy citation

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Record is a part of a journal

Title:	Obzornik zdravstvene nege : strokovno glasilo Zveze društev medicinskih sester in zdravstvenih tehnikov Slovenije
Shortened title:	Obzor. zdrav. neg.
Publisher:	Zbornica zdravstvene nege
ISSN:	1318-2951
COBISS.SI-ID:	39433728

Secondary language

Language:	English
Title:	Hemophilias : clinical features and diagnosis
Abstract:	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 recognised.

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