A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.

Abstract excerpt

IRIDA (iron-refractory iron-deficiency anaemia) is a rare autosomal-recessive disorder hallmarked by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in the transmembrane serine protease TMPRSS6 (transmembrane protease serine 6) that prevent inactivation of HJV (haemojuvelin), an activator of hepcidin...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Anemia, Iron-Deficiency
• Share to Antimicrobial Cationic Peptides