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Article

Ferroportin Disease Caused by a Heterozygous Variant p.Cys326Phe in the SLC40A1 Gene and the Efficacy of Therapeutic Phlebotomy in Children.

Journal of pediatric hematology/oncology - 1 Jul 2019

Shimura Masaru, Nishimata Shigeo, Saito Naoko, Tsutsumi Norito, Suzuki Shinji, Morishima Yasuyuki, Kashiwagi Yasuyo, Numabe Hironao, Kawashima Hisashi

Abstract excerpt

Therapeutic phlebotomy is recommended for treating hereditary hemochromatosis. However, the procedure and its efficacy for children remain unclear. We describe a young female patient with ferroportin disease, which was confirmed from excess iron deposition within hepatocytes and by identifying a heterozygous variant p.Cys326Phe in SLC40A1. She had been followed without phlebotomy. Liver histology at age 13 years...

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PMID: 30130274
DOI: 10.1097/MPH.0000000000001301

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