Funding This work did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors. Declaration of competing interests All authors have read and understood BJH policy on declara- tion of interests and declare that they have no competing interests. Ezio Zanon 1 Samantha Pasca 1 Cristina Santoro 2 Gabriella Gamba 3 Sergio M. Siragusa 4 Angiola Rocino 5 Isabella Cantori 6 Augusto B. Federici 7 Luciana Mameli 8 Gaetano Giuffrida 9 Anna Falanga 10 Corrado Lodigiani 11 Rita C. Santoro 12 Marta Milan 1 Chiara Ambaglio 3 Mariasanta Napolitano 4 Maria G. Mazzucconi 2 1 Haemophilia Centre, University Hospital of Padua, Padova, Italy, 2 Cellular Biotechnology and Haematology Department, Umberto I University Hospital, Roma, Italy, 3 Haemophilia Centre, S. Matteo Hospital, Pavia, Italy, 4 Centre of Haemorrhagic and Thrombotic Diseases, University of Palermo, Palermo, Italy, 5 Haemophilia and Thrombosis Centre, S. Giovanni Bosco Hospital, Napoli, Italy, 6 Centre of Coagulation Diseases, Hospital of Macerata, Macerata, Italy, 7 Haematology and Transfusion Medicine Department, Luigi Sacco Hospital, Milano, Italy, 8 Center of Coagulation Diseases, SS Annunziata Hospital, Sassari, Italy, 9 Haematology Department, VE Ferrarotto and S. Bambino University Hospital, Catania, Italy, 10 Transfusion Medicine and Immune-haematology Department, Giovanni XXIII Hospital, Bergamo, Italy, 11 Medicine Department, Humanitas Clinical Institute, Rozzano (Milano), Italy and 12 Centre of Haemorrhagic and Thrombotic Diseases, Pugliese-Ciaccio Hospital, Catanzaro, Italy. E-mail: zanezio61@gmail.com Keywords: bleeding disorders, coagulation factors, factor VIII, haemophilia. First published online 12 March 2018 doi: 10.1111/bjh.15175 References Baudo, F., Collins, P., Huth-K€ uhne, A., L evesque, H., Marco, P., Nemes, L., Pellegrini, F., Tengborn, L. & Knoebl, P.; EACH2 Registry Contributors. (2012) Management of bleeding in acquired hemo- philia A: results from the European Acquired Hae- mophilia (EACH2) Registry. Blood, 120, 39–46. Borg, J.Y., N egrier, C., Durieu, I., Dolimier, E., Masquelier, A.M. & L evesque, H.; FEIBHAC Study Group. (2015) FEIBA in the treatment of acquired haemophilia A: results from the prospective multi- centre French ‘FEIBA dans l’h emophilie A acquise’ (FEIBHAC) registry. Haemophilia, 21, 330–337. Goudemand, J. (2004) Treatment of bleeding epid- sodes occuring in patients with acquired haemophilia with FEIBA: the French experience. Haemophilia, 10(Suppl. 3), 70. Kessler, C.M. & Knobl, P. (2015) Acquired haemophilia: an overview for clinical practice. European Journal of Haematology, 95(Suppl. 81), 36–44. Knoebl, P., Marco, P., Baudo, F., Collins, P., Huth- K€ uhne, A., Nemes, L., Pellegrini, F., Tengborn, L. &L evesque, H.; EACH2 Registry Contributors. (2012) Demographic and clinical data in acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). Jour- nal of Thrombosis and Haemostasis, 10, 622–631. Sallah, S. (2004) Treatment of acquired haemophi- lia with factor eight inhibitor bypassing activity. Haemophilia, 10, 169–173. Schulman, S. & Kearon, C.; Subcommittee on con- trol of anticoagulation of the scientific and stan- dardization committee of the international society on thrombosis and haemostasis. (2005) Definition of major bleeding in clinical investi- gations of antihemostatic medicinal products in non-surgical patients. Journal of Thrombosis and Haemostasis, 3, 692–694. Zanon, E., Milan, M., Gamba, G., Ambaglio, C., Saggiorato, G., Spiezia, L., Montani, N. & Pran- doni, P. (2015) Activated prothrombin complex concentrate (FEIBA â ) for the treatment and prevention of bleeding in patients with acquired haemophilia: a sequential study. Thrombosis Research, 136, 1299–1302. New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia Bernard-Soulier syndrome (BSS) is a hereditary bleeding disorder affecting the megakaryocytic/platelet lineage and characterized by large platelets, low platelet counts and defective glycoprotein (GP)Ib/IX/V complex, a platelet restricted multi-subunit receptor required for primary haemostasis. BSS is transmitted as an autosomal recessive trait (biallelic BSS), but a few reports have shown that it may occasionally be transmitted in an autosomal dominant fashion (monoallelic BSS) (Noris et al, 2012). BSS is caused by mutations in GP1BA, GP1BB and GP9, encoding the Correspondence ª 2018 British Society for Haematology and John Wiley & Sons Ltd 855 British Journal of Haematology, 2019, 184, 826–883