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Article

Genetic analysis of a compound heterozygous patient with congenital factor X deficiency and regular replacement therapy with a prothrombin complex concentrate.

International journal of hematology - 1 Jan 2020

Togashi Tomoki, Nagaya Satomi, Nagasawa Masayuki, Meguro-Horike Makiko, Nogami Keiji, Imai Yuta, Kuzasa Kana, Sekiya Akiko, Horike Shin-Ichi, Asakura Hidesaku, Morishita Eriko

Abstract excerpt

Congenital factor X (FX) deficiency is a rare bleeding disorder with an incidence of one in one million. The proband, a 2-year-old girl, exhibited easy bruising and a history of umbilical cord bleeding at birth. Prothrombin time (> 40 s) and activated partial thromboplastin time (65.0 s) were prolonged. Marked declines in FX activity (< 1%) and FX antigen levels (5%) were also observed. Genetic analysis of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31667683
DOI: 10.1007/s12185-019-02767-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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