Roche at ISTH 2022

Advances in diagnosis and management of bleeding disorders

This Roche-sponsored scientific symposium covered topics from the lab through to the clinic, including differences between clotting factor VIII and IX deficiencies in female carriers and their underlying mechanisms, as well as the unmet clinical needs of women and girls with haemophilia. Furthermore, discrepancies among clotting factor activity assays, their impact on factor replacement therapy and practical solutions to address those were discussed. Finally, the various reasons for and the impact of a delayed diagnosis of rare bleeding disorders, focusing on women, infants and mobile populations, were examined.


Tuesday, 12th July 2022
13:15 - 14:30pm BST


Advances in diagnosis and management of bleeding disorders

Bringing scientists and clinicians together


13:15 - 13:20

Welcome and Introduction

Prof. Alok Srivastava, Dr. Annette Bowyer

13:20 - 13:38

Women and girls with haemophilia: global diagnostic and therapeutic challenges

Prof. Cedric Hermans

Prof. Hermans discusses the differences between clotting factor VIII and factor IX deficiencies in female carriers of haemophilia, referred to as women and girls with haemophilia, and their underlying mechanisms. He also addresses the lack of awareness around haemophilia among females and the influence of culture, the impact this has on diagnosis and the need for treatment.

Haemophilia A and B are both rare X-linked, hereditary bleeding disorders, caused by mutations in the genes encoding clotting factor VIII and factor IX, respectively, with the varying disease severity classified according to the level of factor activity. Despite carrier testing and genetic counselling being integrated within haemophilia care, diagnosis and management of haemophilia carriers frequently remains suboptimal with several challenges and unmet needs still present.

13:38 - 13:56

Haemophilia and the impact of result variations when monitoring factor replacement

Prof. Andreas Tiede

Prof. Tiede discusses the history of discrepancies between assays of clotting factor VIII activity, including the introduction of recombinant concentrates, and provides an overview of the mechanisms for these discrepancies. He also discusses the significance and relevance of assay discrepancies in contemporary factor concentrates, including longer-acting molecules and provide guidance for practical solutions within clinical laboratories.

The ability to reliably monitor levels of clotting factor activity is clinically essential to optimise treatment as patient clotting factor activity can change over time. Having accurate and reliable assays can aid in clinical decision-making, e.g. individualising dosing regimens and surgical management, and improved monitoring can increase cost effectiveness.

13:56 - 14:15

Delayed diagnosis of rare bleeding disorders – children and women at risk

Dr. Paula HB Bolton-Maggs

Dr. Bolton-Maggs explores the impact of a delayed diagnosis of rare bleeding disorders, particularly in women, infants and in mobile populations and highlight the problems faced in the management of these patients.

Severe deficiency can present with catastrophic bleeding in infancy. These rare bleeding disorders can also cause serious complications in women, requiring timely care and attention. In addition to menorrhagia, affected females may have an increased risk of other gynaecological conditions; risks of miscarriage, ante-partum and post-partum complications are increased with some coagulation factor deficiencies. However, due to the rarity of some bleeding disorders, and their variable clinical symptoms, it has been difficult to produce evidence-based clinical guidelines.

14:15 - 14:30


Prof. Alok Srivastava, Dr. Annette Bowyer

Roche-sponsored symposium recording

Meet the speakers

Alok speaker

Alok Srivastava



Alok Srivastava is a Professor of Medicine in the Department of Haematology, and head of the Centre for Stem Cell Research at the Christian Medical College (CMC), Vellore in India.

Dr Srivastava has been involved with the management of patients with bleeding disorders for over 25 years. His group has worked extensively on developing genetic diagnosis of bleeding disorders and clinical protocols for their management which address the needs of developing countries. Their recent focus has also included assessment of novel therapies in different clinical trials with a major program for developing gene therapy for haemophilia. He leads the World Federation of Hemophilia designated International Hemophilia Training Center at CMC, Vellore. Dr Srivastava is President of the Indian Association for Haemophilia & Allied Disorders. He is also the chair of the steering committee of the Association for Haemophilia & Allied Disorders – Asia-Pacific. He was the chair of the FVIII/IX subcommittee of the Scientific and Standardization Committee (SSC),

International Society of Thrombosis and Haemostasis (ISTH) from 2006-2010. He was on the board of the WFH from 2002-2014 and served as the Vice-President (Medical) from 2012-2014. He has led the writing group for all three editions of the WFH guidelines for the management of haemophilia.

anette speaker

Annette Bowyer

PhD in Cardiovascular Science


Annette Bowyer is the Scientific Lead for Haemophilia Assays in the Department of Coagulation at Sheffield Haemophilia and Thrombosis Centre, Sheffield, UK, which has been designated an International Haemophilia Training Centre by the World Federation of Haemophilia.

Dr Bowyer was awarded her PhD in Cardiovascular Science from the University of Sheffield, UK, with a thesis focussing on the laboratory diagnosis of mild haemophilia A, and has more than 20 years of experience in the diagnosis and monitoring of bleeding disorders. Her current interest is in laboratory issues surrounding treatment products for haemophilia and von Willebrand disease. Dr Bowyer is a member of both the UK Haemophilia Centre Doctors’ Organisation (UKHCDO) Laboratory Working Party and the World Federation of Haemophilia laboratory working party, a fellow of the Institute of Biomedical Science, and a member of the International Society on Thrombosis and Haemostasis and the European Association for Haemophilia and Allied Disorders.

prof. hermanns speaker

Cedric Hermans



Cedric Hermans currently heads the Division of Haematology, the Haemostasis and Thrombosis Unit as well as the Hemophilia Center of the Saint-Luc University Hospital in Brussels, Belgium. He was appointed Associate Professor at the Medical School of the Catholic University of Louvain in 2003, Full Professor in 2012 and Vice-Dean in 2015. Professor Hermans has (co)-authored more than 300 original articles in international journals and is a member of several scientific societies and international advisory boards and collaborative research projects. He was president of EAHAD and is currently a member of the Board of Directors of the World Federation of Haemophilia and the Editor-in-Chief of the Haemophilia Journal. His main research interests lie in the area of haemostasis and thrombosis, especially clinical studies on the treatment modalities and the wide spectrum of complications of haemophilia in both developed and developing countries, as well as new anticoagulants and the management of thrombosis.

andreas tiede speaker

Andreas Tiede

Professor of Haemostasis and Thrombosis


Andreas Tiede is a Professor of Haemostasis and Thrombosis, Head of the Haemophilia Care Centre the Central Hematology Laboratory at Hannover Medical School in Hannover, Germany. His main areas of interest for basic and clinical research include congenital and acquired disorders of haemostasis, classical hematology and laboratory hematology. He is Associate Editor of “Annals of Hematology” and “Thrombosis and Haemostasis”.


paula speaker

Paula H.B.Bolton-Maggs 



Paula H.B.Bolton-Maggs was Medical Director of the Serious Hazards of Transfusion (SHOT) national haemovigilance scheme from October 2011 to August 2018 and is currently an Honourary Senior Lecturer in the Faculty of Biology, Medicine and Health at Manchester University since 2003.

Dr Bolton-Maggs has a longstanding interest in haemostasis; most recently she was responsible for the collation and analysis of the UK adverse incidents relating to blood transfusion (website She received the Mollison award from the British Blood Transfusion Society in 2018 in recognition of her contribution to haemovigilance, was secretary of the International Haemovigilance Network from 2011 to 2018 and received the IHN Medal for her contribution.

Dr Bolton-Maggs has researched for 25 years, especially in the area of factor XI deficiency and has a major interest in rare bleeding disorders. She has taken the lead on and contributed to several national guidelines in this field, published by the British Society for Haematology.


ISTH 2021