| Blood disorders that are rare can cause severe bleeding symptoms and are highly heterogeneous in their occurrence. In
India, consanguinity is widespread and likely to increase the incidence of There are rare bleeding disorders in other
countries that are autosomal recessive. We propose a comprehensive analysis of the mutation The nature and frequency of
RBDs in Indian patients. The PubMed online search engine (www.pubmed.com) was used to locate research that the
authors had published in Indian research on RBDs was located using PubMed search terms "rare bleeding disorders",
"mutations", "India", “fibrinogen”, "afibrinogenemia", "factor II deficiency", "prothrombin" "factor VII deficiency",
"factor V deficiency", "factor X deficiency", "factor XI deficiency", "com. The Human Gene Mutation Database (HGMD)
has been referred to in order to compare Indian mutation frequencies with those of the world (www.hgmd.org). Molecular
pathology of RBDs should be the focus of a network of Indian institutions. As a consequence, RBDs can be diagnosed at a
lower cost and quicker as well as being useful for prenatal diagnosis of affected families during their first trimesterddd |
