La dystrophie thrombocytaire hémorragique (DTH), Etude des récepteurs de l’hémostase (Le syndrome de Bernard Soulier)

Abstract

Blood thrombocytes (platelets) are cells that play a major role in primary hemostasis processes, which can be a target of quantitative deficits or qualitative abnormalities. This can be a more or less serious or even fatal hemorrhagic risk. Bernard Soulier Syndrome (BSS) is a rare inherited haemorrhagic thrombopathy (1 case / 1 million) which is transmitted in the autosomal recessive mode. This type of disease presents difficulties for diagnosis and treatment. Two cases (a boy and a girl) were the subject of this study. To analyze diagnostic problems, based on blood cell hemogram examination, blood smear platelet morphology analyzes and more specific analyzes such as flow cytometry immunophenotyping for the quantification of thrombocytic glycoproteins responsible for this disease such as GPIbα, GPIbβ, GPIX and GPV. The obtained results showed that Bernard Soulier's patients had anemia with severe macrothrombocytopenia and a GPIbα-deficiency of the GPIb-IX-V glycoprotein complex.