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Abstract: Bernard-Soulier syndrome (BSS) is a rare congenital autosomal recessive bleeding disorder,characterized by purpura,epistaxis,gingival bleeding and menorrhagia.Here,we report a case of BSS,whose parents have a consanguineous marriage.The patient had repeated nosebleeds from childhood but was misdiagnosed with thrombocytopenia purpura.Blood smear revealed abnormal platelet in peripheral blood,and CD42b (GPⅠb) expression was reduced on the surface of platelet using flow cytometry examination.The diagnosis of BSS was confirmed by sequencing which demonstrated bilateral GPⅠbα gene mutation.The patient was discharged from hospital with relief of symptoms after platelet transfusions.In summary,for patients with thrombocytopenia,morphological screening of platelet combined with proper laboratory examination facilitates early diagnosis of BSS.
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Key words:
- Bernard-Soulier syndrome /
- flow cytometry /
- gene mutation
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