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Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either <italic>LMAN1</italic> or <italic>MCFD2,</italic> in a Japanese family.

Authors :
Suzuki, S.
Nakamura, Y.
Takagi, Y.
Tamura, S.
Takagi, A.
Kojima, T.
Suzuki, N.
Matsushita, T.
Yamazaki, T.
Kanematsu, T.
Source :
Haemophilia. Jan2018, Vol. 24 Issue 1, pe13-e16. 4p. 1 Diagram, 1 Chart.
Publication Year :
2018

Abstract

The article discusses an increased frequency of a rare bleeding disorder, which is a combined deficiency of two blood coagulation factors, in regions where consanguineous marriage is practiced. According to the author, this rare bleeding disorder, which is a combination of parahaemophilia and haemophilia A is usually caused by mutations of lectin mannose binding 1 (LMAN1) and multiple coagulation factor deficiency 2 (MCFD2).

Details

Language :
English
ISSN :
13518216
Volume :
24
Issue :
1
Database :
Academic Search Index
Journal :
Haemophilia
Publication Type :
Academic Journal
Accession number :
127390512
Full Text :
https://doi.org/10.1111/hae.13360