DOI: 10.36347/sjams.2019.v07i03.051

Pages: 1120-1123

Congenital thrombopathies are a group of haemorrhagic disorders associated with platelet involvement causing bleeding of varying intensity. They are result of genetic abnormalities affecting the functionality and expression of proteins involved in the control of several stages of platelet activation including adhesion, secretion, aggregation and procoagulant activity. They are 1124-1128in childhood and their diagnosis has recently benefited from advances in genetics and molecular biology; however, a number of constitutional thrombocytopenia remain unexplained and should benefit in the future from advances in next-generation sequencing techniques.