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

Autor:	Imashuku S; Department of Laboratory Medicine., Suemori SI; Department of Laboratory Medicine, Kawasaki Medical School., Wakamatsu M; Department of Pediatrics, Nagoya University Graduate School of Medicine., Okuno Y; Department of Virology, Nagoya City University Graduate School of Medical Sciences., Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine., Makino S; Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University., Miyoshi T; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Japan., Chonabayashi K; Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University., Kanno H; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Japan.
Jazyk:	angličtina
Zdroj:	Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2023 May 01; Vol. 45 (4), pp. e510-e513. Date of Electronic Publication: 2023 Feb 21.
DOI:	10.1097/MPH.0000000000002639
Abstrakt:	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. Competing Interests: The authors declare no conflicts of interest. (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu