Juvenile Hemochromatosis With Non-transfused Hemolytic Anemia Caused by a De Novo PIEZO1 Gene Mutation. Issue 4 (21st May 2023)

• Record Type: Journal Article
• Authors: Imashuku, Shinsaku; Suemori, Shin-ichiro; Wakamatsu, Manabu; Okuno, Yusuke; Muramatsu, Hideki; Makino, Shigeru; Miyoshi, Takashi; Chonabayashi, Kazuhisa; Kanno, Hitoshi
• Is Part Of: Journal of pediatric hematology/oncology. Volume 45:Issue 4(2023)
• Page Start: e510
• Page End: e513
• Publication Date: 2023-05-21
• Subjects: dehydrated hereditary stomatocytosis -- hemochromatosis -- PIEZO1 -- mutation; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000002639
• Languages: English
• ISSNs: 1077-4114

Abstract

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.