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Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2021

Feng Yin, Li Qianqian, Shi Panlai, Liu Ning, Kong Xiangdong, Guo Ruixia

Abstract excerpt

BACKGROUND: Haemophilia A (HA) is an X-linked bleeding disorder caused by mutations in the coagulation factor Ⅷ (F8) gene. Its incidence in men is estimated to be approximately 1/5000. OBJECTIVE: This study aimed to characterize the mutation spectrum of the F8 gene in 485 Chinese families, encompassing all HA phenotypic classes. Additionally, we evaluated the accuracy of prenatal diagnosis of foetuses at risk of...

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Identifiers

PMID: 33245802
DOI: 10.1111/hae.14206
PMCID: PMC7898705

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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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