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Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.

Annals of hematology - 1 Jan 2024

Kimura Hiroyuki, Onozawa Masahiro, Hashiguchi Junichi, Hidaka Daisuke, Kanaya Minoru, Matsukawa Toshihiro, Okada Hiromi, Kondo Takeshi, Matsuno Yoshihiro, Teshima Takanori

Abstract excerpt

Thrombopoietin (THPO) is an essential factor for platelet production. Hereditary thrombocythemia (HT) is caused by a germline mutation of THPO, MPL, or JAK2 and is inherited in an autosomal-dominant manner. We identified a Japanese family with HT due to a point mutation of the splicing donor site of the THPO gene (THPO c.13 + 1G > A). Bone marrow biopsy showed increased megakaryocytes mimicking essential...

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PMID: 37962621
DOI: 10.1007/s00277-023-05523-9

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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