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Article

ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.

British journal of haematology - 1 Jun 2024

Zanchetta Melania Eva, Barozzi Serena, Isidori Federica, Marconi Caterina, Farinasso Loredana, Bottega Roberta, Savoia Anna, Pecci Alessandro, Faleschini Michela

Abstract excerpt

ACTN1-related thrombocytopenia is a rare disorder caused by heterozygous variants in the ACTN1 gene characterized by macrothrombocytopenia and mild bleeding tendency. We describe for the first time two patients affected with ACTN1-RT caused by a homozygous variant in ACTN1 (c.982G>A) with mild heart valve defects unexplained by any other genetic variants investigated by WES. Within the reported family, the...

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PMID: 38594875
DOI: 10.1111/bjh.19457

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