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A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree.

Acta haematologica - 1 Jan 2021

Lu Songsong, Lin Weicheng, Ji Huijuan, Su Ming, Zhao Xiaotao, Wang Chengbin

Abstract excerpt

BACKGROUND: Mutations in the F10-coding gene can cause factor X (FX) deficiency, leading to abnormal coagulation activity and severe tendency for hemorrhage. Therefore, identifying mutations in F10 is important for diagnosing congenital FX deficiency. METHODS: We studied a 63-year-old male patient with FX deficiency and 10 of his family members. Clotting and immunological methods were used to determine activated...

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Aged, 80 and over
Asian People
China
Factor X
Heterozygote
Partial Thromboplastin Time

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32599596
DOI: 10.1159/000507689

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