Impaired Hepcidin Expression in Alpha-1-Antitrypsin Deficiency Causes Iron Overload and Cirrhosis
B Schaefer, D Haschka, A Finkenstedt, B Petersen, I Theurl, B Henninger, A Janecke, C Wang, H Lin, L Veits, W Vogel, G Weiss, A Franke, H Zoller · Zeitschrift für Gastroenterologie · 2015 · Heft 05
Bibliografische Angaben
Zusammenfassung
Genetic hemochromatosis is a complex oligogenic disease where relative deficiency of the iron hormone hepcidin is the underlying cause. Testing for common mutations in the hemochromatosis gene HFE is often unsufficient to explain iron overload because additional defects in other genes related to iron homeostasis or environmental factors can be present and modify disease manifestation. In clinical practice testing beyond mutations in HFE is rarely done. Whole exome sequencing and Sanger candidate gene analysis was performed in a family with alpha-1-antitrypsin (A1AT) deficiency and hepatic iron overload with cirr…
