Article
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
British journal of haematology - 1 Jul 2024
Marzollo Antonio, Zampieri Stefania, Barozzi Serena, Yousaf Muhammad Abrar, Quartararo Jade, De Rocco Daniela, Faleschini Michela, Marconi Caterina, Ceccatelli Berti Camilla, Bozzi Valeria, Russo Giovanna, Giordano Paola, Goffrini Paola, Bresolin Silvia, Pastore Annalisa, Savoia Anna, Pecci Alessandro
Abstract excerpt
Thrombocytopenia 4 (THC4) is an autosomal-dominant thrombocytopenia caused by mutations in CYCS, the gene encoding cytochrome c (CYCS), a small haeme protein essential for electron transport in mitochondria and cell apoptosis. THC4 is considered an extremely rare condition since only a few patients have been reported so far. These subjects presented mild thrombocytopenia and no or mild bleeding tendency. In this...
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