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Genomics of bleeding disorders
Author(s) -
Goodeve A. C.,
Pavlova A.,
Oldenburg J.
Publication year - 2014
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/hae.12424
Subject(s) - medicine , haemophilia , phenotype , genetics , haemophilia a , disease , mutation , von willebrand disease , bioinformatics , genotype phenotype distinction , coagulation disorder , gene , coagulation , biology , von willebrand factor , pathology , immunology , pediatrics , platelet
Summary Molecular genetic tools are widely applied in inherited bleeding disorders. New genes involved in haemorrhagic disorders have been identified by genome wide linkage analysis on families with a specific phenotype. LMNA 1 or MCFD in combined FV / FVIII ‐deficiency and VKORC 1 in vitamin K coagulation factor deficiency type 2 are two examples. Identification of the causative gene mutation has become standard for most bleeding disorders. Knowledge of the causative mutation allows genetic counselling in affected families and most importantly adds to the pathophysiological understanding of phenotypes. Haemophilia A represents a model as the F8 gene mutation predicts the risk of developing an inhibitor and more recently also the bleeding phenotype. In this review novel genetic diagnostic strategies for bleeding disorders are outlined and inhibitor formation is presented as an example for clinical relevant phenotype/genotype correlation studies.