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The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies
- Source :
- Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
- Publication Year :
- 2024
- Publisher :
- BMC, 2024.
-
Abstract
- Abstract Background Factor XI (FXI) deficiency is an autosomal hemorrhagic disorder characterized by reduced plasma FXI levels. Multiple ancestral variants in the F11 gene have been identified in Ashkenazi Jews and other selected European populations. However, there are few reports of predominant variants in Chinese and/or East Asian populations. The aim of this study is to characterize the genotypes and phenotypes of FXI deficiency and identify the predominant variants. Results Of the 41 FXI-deficient patients, 39 exhibited severe FXI defects, considerably more than those with partial defects. The APTT levels showed a negative correlation with FXI activity levels (coefficient=-0.584, P
- Subjects :
- Inherited bleeding disorders
Factor XI deficiency
Variant
Gene frequency
Medicine
Subjects
Details
- Language :
- English
- ISSN :
- 17501172
- Volume :
- 19
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Orphanet Journal of Rare Diseases
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.807c23ec3214363b66bfc16e24d4cf0
- Document Type :
- article
- Full Text :
- https://doi.org/10.1186/s13023-024-03235-5