This process involves a series of orderly steps including compone

This process involves a series of orderly steps including components of the vasculature, platelets (primary haemostasis) and coagulation proteins

(secondary haemostasis), leading to the formation of a platelet plug and culminating in the formation of a stable fibrin clot. Congenital defects of platelets or plasma proteins involved in this process generally lead to lifelong bleeding disorders [1,2]. Haemophilia A and haemophilia selleck inhibitor B, both of which are X-chromosome linked and caused by a defect of coagulation factor (F) VIII or FIX, are more common [3–5]. Other bleeding disorders, with the exception of von Willebrand disease, are relatively rare (Table 1). Molecular genetic diagnosis of bleeding disorders remains an important and integral part of the evaluation of this condition.

There are two different approaches to the genetic evaluation of bleeding disorders: analysis of single nucleotide polymorphism (SNP) or microsatellite short tandem repeat (STR) markers in the gene of interest to track the defective chromosome in the family (linkage analysis), or identification of the disease-causing mutation in the patient’s coagulation factor gene (direct mutation detection) [6,7]. Before embarking on genetic testing, it is imperative Selleck Alpelisib that detailed clinical evaluation and conclusive phenotypic diagnosis be available. In this review, the authors trace the evolution and the applications of molecular genetics in bleeding disorders. The current protocols available for genetic testing is a convergence of intense research and development of genetic tools over the last 50 years (Prof. Tuddenham) and which has benefited immensely enough from the availability of a vast repertoire of bio-informatics and molecular biology tools over the last decade or so (Dr. Anne Goodeve). With a steady growth in the number of

laboratories that offer genetic testing for disorders of haemostasis worldwide, the availability of rigorous external quality assessment programmes (Dr. David Perry) and reference materials to run such programmes (Dr. Elaine Gray) have helped to maintain the quality and integrity of reporting data during the genetic testing of various bleeding disorders. Since 1962 is the starting point of this short history, one asks oneself, ‘What was it like back then?’ Personally I had been accepted into Westminster Medical School and was studying mathematics during what is now called ‘the gap year’. Although I was in London, the famous 60s passed me by almost completely. Genetics as a science was still in its formal era as defined by Haldane in the Croonian lecture of 1948.

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