Inherited thrombocytopenia (IT) is a heterogeneous group of diseases with a genetic origin. The primary symptom presented by patients is a reduced platelet count in the peripheral blood. Nevertheless, certain forms of IT are characterized by the occurrence of other congenital malformations or predisposition to acquire additional diseases. Five related subjects with lifelong thrombocytopenia were admitted to our clinic. A total of 16 cases of persistent thrombocytopenia were investigated in the family history. Molecular and cytogenetic analysis covered MECOM, MPL, RUNX1, ETV6, and GATA1 genes, whose mutations are known to cause predisposing forms of IT. The laboratory testing revealed thrombocytopenia ranging from 19 to 65 × 109/L in the subjects. Mild bleeding symptoms were present in each of the subjects, while two of five had a history of severe hemorrhage requiring transfusion of blood products. Establishing a diagnosis of IT protects the patient from unnecessary treatment and enables the appropriate surveillance.
Keywords: Gene mutations; inherited thrombocytopenia; platelet count; platelets.
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