Open AccessCoagulation disorders seen through the window of molecular biology
Author(s) -
Kanjaksha Ghosh
Publication year - 2007
Publication title -
indian journal of human genetics
Language(s) - English
Resource type - Journals
eISSN - 0971-6866
pISSN - 1998-362X
DOI - 10.4103/0971-6866.38980
Subject(s) - coagulation , coagulation disorder , phenotype , biology , clinical phenotype , molecular cell biology , computational biology , genetics , microbiology and biotechnology , medicine , gene
Coagulation disorders have been traditionally worked up by their clinical phenotypes and coagulation factor assays which are dependent on APTT- and PT-based techniques. Development of chromogenic substrates in the late seventies and early eighties allowed coagulation factors to be measured like enzymes. There was still a major lacuna in the understanding of the biology of different coagulation disorders. Modern molecular biology - which developed as an unique synthesis of biochemistry, immunology, cell biology, and genetics - allowed us to have a more comprehensive understanding of the pathobiology of many of these coagulation disorders. This overview presents several examples which show how we have enriched our understanding about the varied clinical phenotypes of different coagulation disorders.