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

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

Journal of Pediatric Hematology/Oncology: August 20, 2018 - Volume Publish Ahead of Print - Issue - p
doi: 10.1097/MPH.0000000000001301
Clinical and Laboratory Observations: PDF Only

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 revealed iron deposition progression. Phlebotomy was initiated and her iron markers and imaging findings improved without severe adverse effects. Therapeutic phlebotomy for children is effective and well-tolerated and should be considered as early as possible after a hemochromatosis diagnosis.

*Department of Pediatrics

Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan

The authors declare no conflict of interest.

Reprints: Masaru Shimura, MD, PhD, Department of Pediatrics, Tokyo Medical University, 6-7-1 Nishishinjuku, Shinjuku-ku, Tokyo 160-0023, Japan (e-mail:

Received January 6, 2018

Accepted July 24, 2018

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