Dědičná trombocytopenie na podkladě patogenní varianty genu MYH9 diagnostikovaná u dospělé ženy.
|Title in English||Hereditary thrombocytopenia caused by a pathogenic variant of the MYH9 gene diagnosed in an adult woman.|
|Year of publication||2020|
|Type||Article in Periodical|
|Magazine / Source||Transfúze a hematologie dnes|
|MU Faculty or unit|
|Keywords||hereditary thrombocytopenia; MYH 9; Sebastian syndrome|
|Description||Hereditary thrombocytopenias are rare diseases. Patients do not suffer from bleeding in many cases, which is why inherited thrombocytopenia can be diagnosed in adulthood. If hereditary aetiology is suspected, modern genomic methods should be performed to specify the diagnosis. We present a case report of an adult woman with hereditary thrombocytopenia caused by a rare pathogenic variant c.3493C>T of the MYH9 gene. Inborn thrombocytopenia with giant platelets and possible development of renal impairment, hearing loss and cataracts are typical features of MYH9 related disorders. As yet, our patient has not developed either bleeding symptoms or any relevant organ damage. We believe she has Sebastian syndrome, given the type of mutation and clinical presentation.|