PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.

doi:10.1007/s12185-016-1970-x

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Article

PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.

International journal of hematology - 1 Jul 2016

Imashuku Shinsaku, Muramatsu Hideki, Sugihara Takashi, Okuno Yusuke, Wang Xinan, Yoshida Kenichi, Kato Ayako, Kato Koichi, Tatsumi Yasuaki, Hattori Ai, Kita Shinya, Oe Keishi, Sueyoshi Atsushi, Usui Takeshi, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Ogawa Seishi, Kojima Seiji, Kanno Hitoshi

Abstract excerpt

Hereditary xerocytosis (HX) or dehydrated hereditary stomatocytosis (DHS) [OMIM 194380], in which PIEZO1 gene mutation has recently been identified, is difficult to diagnose. We report here the discovery of a PIEZO1 gene mutation in a Japanese family (father, daughter, and son) who were previously diagnosed with hereditary high phosphatidylcholine hemolytic anemia (HPCHA). All of the affected family members had...

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PMID: 26971963
DOI: 10.1007/s12185-016-1970-x

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PIEZO1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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