Haematologica
Divergent processing of FVIII light chain variants: secretory potential versus proteasomal retention.
Heike Singer, Payal Chawla, Katrin J Czogalla-Nitsche, Pujan Engels, Francesco Forin, Marc Sylvester, Melanie Rath, Jens Müller, Tobias Feist, Behnaz Pezeshkpoor, Rawya Al-Rifai, Osman El-Maarri, Johannes Oldenburg
Published: 202510.3324/haematol.2025.288250
Abstract
In 20-30% of severe Haemophilia A (HA) patients, FVIII replacement therapy is hindered by inhibitory antibodies. Nonsense mutations in the FVIII light chain (A3-C1-C2) carry a higher risk of inhibitor formation than those in the heavy chain (A1-A2-B)…
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