Article
Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1: a case report.
BMC gastroenterology - 5 Mar 2021
Nishina Sohji, Tomiyama Yasuyuki, Ikuta Katsuya, Tatsumi Yasuaki, Toki Yasumichi, Kato Ayako, Kato Koichi, Yoshioka Naoko, Sasaki Kyo, Hara Yuichi, Hino Keisuke
Abstract excerpt
BACKGROUND: Hereditary hemochromatosis is a heterogenous group of inherited iron-overload conditions that is characterized by increased intestinal absorption and deposition in vital organs. Hepcidin is a soluble regulator that acts to attenuate both intestinal iron absorption and iron release from reticuloendothelial macrophages through internalization of ferroportin-1, an iron exporter. Ferroportin disease is...
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