Author/Editor		Markovič, Saša
Title		Hemokromatoza
Translated title		Hemochromatosis
Type		članek
Source		Med Razgl
Vol. and No.		Letnik 39, št. Suppl 5
Publication year		2000
Volume		str. 69-73
Language		slo
Abstract		Hemochromatosis includes a number of iron overload diseases. Hereditary hemochromatosis is associated with mutation in HFE gene and is the most common metabolic disease. During the last years, molecular genetic analysis have revealed some additional, nonHFE associated herediatry iron overload diseases. The present diagnosis is based on molecular genetic testing.
Summary		Hemokromatoza je bolezen, ki nastane kot posledica prekomernega kopičenja železa v telesu. Dedna hemokromatoza je vezana na mutacijo HFE-gena in je najpogostejša presnovna bolezen na svetu. Molekularne analize zadnjih let so pokazale, da so še nekatere redkejše dedne bolezni prekomerne obremenitve z železom, ki niso povezane z mutacijo HFE-gena. Sodobna diagnostika bolezni je molekularno-biološka.
Descriptors		HEMOCHROMATOSIS IRON OVERLOAD