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Article

Juvenile Hemochromatosis With Non-transfused Hemolytic Anemia Caused by a De Novo PIEZO1 Gene Mutation.

Journal of pediatric hematology/oncology - 1 May 2023

Imashuku Shinsaku, Suemori Shin-Ichiro, Wakamatsu Manabu, Okuno Yusuke, Muramatsu Hideki, Makino Shigeru, Miyoshi Takashi, Chonabayashi Kazuhisa, Kanno Hitoshi

Abstract excerpt

Differential diagnosis of juvenile hemochromatosis along with hemolytic anemia is often difficult. We report a 23-year-old woman with macrocytic hemolytic anemia with iron overload. The patient showed high serum ferritin and transferrin saturation and low serum transferrin and ceruloplasmin. We also noticed stomatocytes in her blood smear, which was confirmed by scanning electron microscopy. Target gene...

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Identifiers

PMID: 36898020
DOI: 10.1097/MPH.0000000000002639

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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