Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease.

ABSTRACT: Src-related thrombocytopenia (SRC-RT) is a rare autosomal dominant, inherited platelet disorder resulting from the p.E527K heterozygous germline gain-of-function variant of Src. To date, genetic diagnosis of the disease has only been reported in 7 patients from 3 unrelated families. The clinical features ranged from isolated thrombocytopenia to complex syndromic manifestations characterized by thrombocytopenia, bleeding, myelofibrosis, splenomegaly, and bone disease. We report a new 3-generation kindred with the Src p.E527K variant. Patients presented with rather variable platelet counts (38-139 × 109/L), mildly impaired platelet function, >15% immature platelet fraction, and with a significant proportion of large-giant platelets. Four adults from the family were diagnosed with immune thro

SUBMITTER: Palma-Barqueros V 

PROVIDER: S-EPMC9631645 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature