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First Pathogenic Deep-Intronic SERPINC1 Variant Identified in Hereditary Antithrombin Deficiency – JTH
JTH/LinkedIn
Jul 11, 2026, 18:25

First Pathogenic Deep-Intronic SERPINC1 Variant Identified in Hereditary Antithrombin Deficiency – JTH

Journal of Thrombosis and Haemostasis (JTH) shared a post on LinkedIn about a recent article by P. Christian Remmelzwaal et al, published in JTH, adding:

”Novel SERPINC1 variants in hereditary antithrombin deficiency: first pathogenic deep-intronic variant, revealed by multiple genomic and transcriptomic approaches

Hereditary antithrombin deficiency usually traces to coding mutations in SERPINC1, but some families stay unexplained.

Combining genomic and transcriptomic methods, this study identified several new variants, including the first pathogenic deep-intronic one, which causes deficiency by disrupting splicing. With it, every tested family at the authors’ center now has an identified cause for their antithrombin deficiency.”

Title: Novel SERPINC1 variants in hereditary antithrombin deficiency: first pathogenic deep-intronic variant, revealed by multiple genomic and transcriptomic approaches

Authors: P. Christian Remmelzwaal, René Mulder, Jelkje J. de Boer-Bergsma, Albertus Vinke, Hilde A.M. Kooistra, Nic J.G.M. Veeger, Albertus Wierenga, Jan Jacob Schuringa, Michael Lukens, Karina Meijer

First Pathogenic Deep-Intronic SERPINC1 Variant Identified in Hereditary Antithrombin Deficiency - JTH

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Albertus Vinke Albertus Wierenga Antithrombin Deficiency Health Hematology Hemostasis Hemostasis News Hemostasis Today Hilde A.M. Kooistra Jan Jacob Schuringa Jelkje J. de Boer-Bergsma JTH Karina Meijer Medicine Michael Lukens Nic J.G.M. Veeger P. Christian Remmelzwaal René Mulder SERPINC1 thrombosis
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