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

Author:

Imashuku Shinsaku1ORCID,Suemori Shin-ichiro2,Wakamatsu Manabu3,Okuno Yusuke4,Muramatsu Hideki3,Makino Shigeru5,Miyoshi Takashi6,Chonabayashi Kazuhisa5,Kanno Hitoshi6

Affiliation:

1. Department of Laboratory Medicine

2. Department of Laboratory Medicine, Kawasaki Medical School

3. Department of Pediatrics, Nagoya University Graduate School of Medicine

4. Department of Virology, Nagoya City University Graduate School of Medical Sciences

5. Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University

6. Department of Transfusion Medicine and Cell Processing, Tokyo Women’s Medical University, Japan

Abstract

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 sequencing identified a mutation in PIEZO1 (heterozygous c.6008C>A: p.A2003D). This mutation was reported previously in a family with dehydrated hereditary stomatocytosis (DHS1, [OMIM 194380]), but in the current case, it was identified to be a de novo mutation. We underscore DHS1 in the differential diagnosis of iron overload associated with non-transfused hemolytic anemia in children and young adults.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Clinical evaluation of hyperferritinemia with or without iron overload;Journal of Laboratory and Precision Medicine;2024-04

2. A Revised Classification of Primary Iron Overload Syndromes;Journal of Clinical and Translational Hepatology;2024-03-19

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