Article
Hematology
Bosi Alessandro, Barcellini Wilma, Fattizzo Bruno
Summary: Thrombosis risk in thrombocytopenic patients is complex, with COVID-19 infection adding additional risk. This case highlights challenges in managing thrombotic risk in cytopenic patients and the impact of COVID-19.
THROMBOSIS JOURNAL
(2022)
Review
Pharmacology & Pharmacy
Young-A Heo
Summary: Some monkeys in the Asia-Pacific region have unique physiological characteristics that enable them to release oxygen during the night, enhancing their vitality and adaptation to dark environments.
Article
Hematology
Ken Ishiyama, Yuji Yonemura, Tatsuya Kawaguchi, Kohei Hosokawa, Chiharu Sugimori, Yasutaka Ueda, Hiroyuki Takamori, Naoshi Obara, Hideyoshi Noji, Yukari Shirasugi, Kiyoshi Ando, Tsutomu Shichishima, Haruhiko Ninomiya, Shigeru Chiba, Jun-ichi Nishimura, Yuzuru Kanakura, Shinji Nakao
Summary: In this observational study, it was found that 52.6% of patients with acquired aplastic anemia (AA) and 13.7% of patients with myelodysplastic syndrome (MDS) had glycosylphosphatidylinositol-anchored protein-deficient (GPI[-]) cell populations (PNH-type cells). Furthermore, the presence of =1% PNH-type granulocytes was found to predict a higher likelihood of PNH-type cell expansion. This study provides valuable insights into the epidemiological characteristics and clinical significance of PNH-type cells in AA and MDS patients.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Medicine, General & Internal
Arcangelo Iannuzzi, Antonio Parrella, Francesca De Ritis, Anna Cammarota, Lucia Berloco, Francesca Paudice, Giovanni D'Angelo, Emilio Aliberti, Gabriella Iannuzzo
Summary: A 78-year-old woman was diagnosed with Aplastic Anaemia associated with Paroxysmal Nocturnal Haemoglobinuria during an acute SARS-CoV-2 infection. The virus may have directly contributed to the disease, or altered the phosphatidylinositol glycan class A (PIGA) gene pathway.
MEDICINA-LITHUANIA
(2022)
Article
Hematology
Bruno Quintino de Oliveira, Luiz F. B. Catto, Barbara A. A. Santana, M. Florencia Tellechea, Priscila S. Scheucher, Phillip Scheinberg, Rodrigo T. Calado
Summary: Eltrombopag increases the numbers of CD34(+) cells and multipotent progenitors in patients with immune aplastic anaemia, suggesting a potential role in expanding these cell populations in vivo. No aberrant phenotype was observed in the analysed samples.
BRITISH JOURNAL OF HAEMATOLOGY
(2021)
Review
Hematology
Antonio Maria Risitano, Regis Peffault de Latour
Summary: Paroxysmal nocturnal haemoglobinuria (PNH) is a rare disease characterized by complement-mediated intravascular hemolysis, severe thrombophilia, and bone marrow failure. Treatment varies depending on the patient's condition, with the anti-C5 monoclonal antibody eculizumab revolutionizing treatment by controlling hemolysis and thrombotic risk effectively. New strategies of complement inhibition are emerging to improve patient outcomes.
BRITISH JOURNAL OF HAEMATOLOGY
(2022)
Article
Hematology
Zlatko Pravdic, Mirjana Mitrovic, Andrija Bogdanovic, Marijana Virijevic, Nikica Sabljic, Nikola Pantic, Nada Suvajdzic Vukovic
Summary: Paroxysmal nocturnal haemoglobinuria (PNH) is a rare acquired hematological disease characterized by complement-mediated hemolysis, bone marrow failure, and venous thrombosis. Severe acute respiratory distress syndrome coronavirus 2 (SARS-CoV-2) disease 2019 (COVID-19) is associated with a high incidence of thrombosis in hospitalized pneumonia patients, with deep venous thrombosis (DVT) being a rare presenting symptom. This case describes a PNH patient on eculizumab for over 5 years who presented with DVT as the first sign of COVID-19.
Letter
Genetics & Heredity
Sugat Adhikari, Surendra Sapkota, Suraj Shrestha, Kshitiz Karki, Anjan Shrestha
Summary: Paroxysmal nocturnal hemoglobinuria (PNH) is caused by a mutation in the phosphatidylinositol glycan class-A gene, resulting in uncontrolled complement activation and intravascular hemolysis. Eculizumab, a terminal complement inhibitor, has revolutionized the treatment of PNH but is expensive, posing challenges in low-middle income countries (LMICs) like Nepal. This article discusses potential approaches for PNH treatment in Nepal and other LMICs.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Neurosciences
George Abraham Ninan, T. Angel Miraclin, Sujith Karumathil, John Davis Prasad, Sarath Kumar, Deepti Bal, Aditya Nair, Shaikh Atif Ahmed, Prabhakar Appaswamy Thirumal, Biju George, Ajith Sivadasan, Sanjith Aaron
Summary: Paroxysmal nocturnal haemoglobinuria (PNH) is a rare clonal hematopoietic disorder that leads to increased complement sensitivity of red blood cells, intravascular hemolysis, and vascular inflammation. Management of cerebrovascular emergencies in patients with PNH is complex.
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES
(2023)
Article
Medicine, Research & Experimental
Candice L. Hendricks, Ashen Naidoo, Rajendra Thejpal, Nadine Rapiti, Beverley Neethling, Yasmin Goga, Suvarna Buldeo
Summary: This study found that more than half of children with idiopathic aplastic anemia (AA) had paroxysmal nocturnal hemoglobinuria (PNH) clones. Compared to the PNH-negative group, children with PNH clones were older and had lower total white cell counts. The size of the clone did not impact clinical severity, but the use of immunosuppressive therapy (IST) may positively impact prognosis.
AFRICAN JOURNAL OF LABORATORY MEDICINE
(2022)
Article
Hematology
Stephen J. Richards, Daniel Painter, Anita J. Dickinson, Morag Griffin, Talha Munir, Louise Arnold, Daniel Payne, Alexandra Pike, Petra Muus, Anita Hill, Darren J. Newton, Claire McKinley, Rachael Jones, Richard Kelly, Alex Smith, Eve Roman, Peter Hillmen
Summary: The study identified 197 patients with detectable PNH clones over 15 years, with 88% having aplastic anaemia, 8% classical PNH, and 3% myelodysplastic syndrome. The overall incidence rate was estimated at 0.35 cases per 100,000 people per year, equating to 220 newly diagnosed cases in the UK each year. The overall prevalence rate was 3.81 per 100,000, equating to an estimated 2400 prevalent cases in the UK.
EUROPEAN JOURNAL OF HAEMATOLOGY
(2021)
Article
Pathology
Dajeong Jeong, Hee Sue Park, Sung-Min Kim, Kyongok Im, Jiwon Yun, Young Eun Lee, Sohee Ryu, Yong-Oon Ahn, Sung-Soo Yoon, Dong Soon Lee
Summary: A strong positive correlation was found between PNH clone size detected by FCM and variant allele frequency of PIG gene mutation, but only a small portion of patients with small PNH clones harbored PIG gene mutations.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY
(2021)
Article
Oncology
Bruno Fattizzo, Robin Ireland, Alan Dunlop, Deborah Yallop, Shireen Kassam, Joanna Large, Shreyans Gandhi, Petra Muus, Charles Manogaran, Katy Sanchez, Dario Consonni, Wilma Barcellini, Ghulam J. Mufti, Judith C. W. Marsh, Austin G. Kulasekararaj
Summary: In this large single-center study, a high prevalence of small and very small PNH clones was reported among patients tested. PNH positivity was associated with better response to immunosuppressive therapy and stem cell transplant, as well as a more favorable impact on disease progression, leukemic evolution and overall survival, highlighting the importance of systematic PNH testing in patients with bone marrow failures.
Article
Medicine, General & Internal
Runsen Du, Lihua Zheng, Peng Liu, Yaheng Zhao, Yan Yang, Lei Zhang, Zengren Zhao
Summary: We report a case of a female who was cured of hemorrhagic esophageal varices caused by paroxysmal nocturnal hemoglobinuria (PNH) through transjugular intrahepatic portosystemic shunt (TIPS) treatment. PNH complicated by portal vein and visceral veins thrombosis without hepatic veins is extremely rare, and it can be easily misdiagnosed due to lack of awareness. Hemorrhagic esophageal varices due to PNH with portal vein thrombosis have only been reported in one previous case in 1974, and this report presents the second case.
FRONTIERS IN MEDICINE
(2023)
Article
Oncology
Eleni Gavriilaki, Athanasios Tragiannidis, Maria Papathanasiou, Sotiria Besikli, Paraskevi Karvouni, Vassiliki Douka, Eleni Paphianou, Emmanuel Hatzipantelis, Giorgos Papaioannou, Anastasia Athanasiadou, Anastasia Marvaki, Alkistis-Kira Panteliadou, Anna Vardi, Ioannis Batsis, Antonia Syrigou, Despina Mallouri, Chrysavgi Lalayanni, Ioanna Sakellari
Summary: This study aims to investigate the efficiency and safety of therapeutic methods for aplastic anemia and paroxysmal nocturnal hemoglobinuria. The study found that novel treatments are changing the field of BMF syndromes, but further research is needed to personalize algorithms.
FRONTIERS IN ONCOLOGY
(2022)
Article
Cell Biology
Pierre Cauchy, Sally R. James, Joaquin Zacarias-Cabeza, Anetta Ptasinska, Maria Rosaria Imperato, Salam A. Assi, Jason Piper, Martina Canestraro, Maarten Hoogenkamp, Manoj Raghavan, Justin Loke, Susanna Akiki, Samuel J. Clokie, Stephen J. Richards, David R. Westhead, Michael J. Griffiths, Sascha Ott, Constanze Bonifer, Peter N. Cockerill
Editorial Material
Medical Laboratory Technology
Stephen J. Richards
CYTOMETRY PART B-CLINICAL CYTOMETRY
(2018)
Letter
Hematology
Morag Griffin, Austin Kulasekararaj, Sheyans Gandhi, Talha Munir, Stephen Richards, Louise Arnold, Nana Benson-Quarm, Nicola Copeland, Isabel Duggins, Kathryn Riley, Peter Hillmen, Judith Marsh, Anita Hill
Letter
Hematology
Morag Griffin, Austin Kulasekararaj, Sheyans Gandhi, Talha Munir, Stephen Richards, Louise Arnold, Nana Benson-Quarm, Nicola Copeland, Isabel Duggins, Kathryn Riley, Peter Hillmen, Judith Marsh, Anita Hill
Article
Hematology
Richard J. Kelly, Anita Hill, Louise M. Arnold, Gemma L. Brooksbank, Stephen J. Richards, Matthew Cullen, Lindsay D. Mitchell, Dena R. Cohen, Walter M. Gregory, Peter Hillmen
Article
Hematology
Anita Hill, Robert J. Sapsford, Andrew Scally, Richard Kelly, Stephen J. Richards, Gus Khurisgara, Mohan U. Sivananthan, Peter Hillmen
BRITISH JOURNAL OF HAEMATOLOGY
(2012)
Article
Medical Laboratory Technology
Matthew Fletcher, D. Robert Sutherland, Liam Whitby, Alison Whitby, Stephen J. Richards, Erica Acton, Michael Keeney, Michael Borowitz, Andrea Illingworth, John T. Reilly, David Barnett
CYTOMETRY PART B-CLINICAL CYTOMETRY
(2014)
Article
Oncology
T. M. Westers, R. Ireland, W. Kern, C. Alhan, J. S. Balleisen, P. Bettelheim, K. Burbury, M. Cullen, J. A. Cutler, M. G. Della Porta, A. M. Drager, J. Feuillard, P. Font, U. Germing, D. Haase, U. Johansson, S. Kordasti, M. R. Loken, L. Malcovati, J. G. te Marvelde, S. Matarraz, T. Milne, B. Moshaver, G. J. Mufti, K. Ogata, A. Orfao, A. Porwit, K. Psarra, S. J. Richards, D. Subira, V. Tindell, T. Vallespi, P. Valent, V. H. J. van der Velden, T. M. de Witte, D. A. Wells, F. Zettl, M. C. Bene, A. A. van de Loosdrecht
Review
Oncology
Arjan A. van de Loosdrecht, Robin Ireland, Wolfgang Kern, Matteo G. Della Porta, Canan Alhan, Jan Sebastian Balleisen, Peter Bettelheim, David T. Bowen, Kate Burbury, Lisa Eidenschink, Mario Cazzola, Spencer S. C. Chu, Matthew Cullen, Jevon A. Cutler, Angelika M. Drager, Jean Feuillard, Pierre Fenaux, Patricia Font, Ulrich Germing, Detlef Haase, Eva Hellstrom-Lindberg, Ulrika Johansson, Shahram Kordasti, Michael R. Loken, Luca Malcovati, Jeroen G. te Marvelde, Sergio Matarraz, Timothy Milne, Bijan Moshaver, Ghulam J. Mufti, Veselka Nikolova, Kiyoyuki Ogata, Uta Oelschlaegel, Alberto Orfao, Gert J. Ossenkoppele, Anna Porwit, Uwe Platzbecker, Frank Preijers, Katherina Psarra, Stephen J. Richards, Dolores Subira, John F. Seymour, Vicky Tindell, Teresa Vallespi, Peter Valent, Vincent H. J. van der Velden, Denise A. Wells, Theo M. de Witte, Florian Zettl, Marie C. Bene, Theresia M. Westers
LEUKEMIA & LYMPHOMA
(2013)
Article
Biochemistry & Molecular Biology
K. Walter, P. N. Cockerill, R. Barlow, D. Clarke, M. Hoogenkamp, G. A. Follows, S. J. Richards, M. J. Cullen, C. Bonifer, H. Tagoh
Letter
Hematology
Morag Griffin, Peter Hillmen, Talha Munir, Stephen Richards, Louise Arnold, Kathryn Riley, Anita Hill
Article
Genetics & Heredity
Salam A. Assi, Maria Rosaria Imperato, Daniel J. L. Coleman, Anna Pickin, Sandeep Potluri, Anetta Ptasinska, Paulynn Suyin Chin, Helen Blair, Pierre Cauchy, Sally R. James, Joaquin Zacarias-Cabeza, L. Niall Gilding, Andrew Beggs, Sam Clokie, Justin C. Loke, Phil Jenkin, Ash Uddin, Ruud Delwel, Stephen J. Richards, Manoj Raghavan, Michael J. Griffiths, Olaf Heidenreich, Peter N. Cockerill, Constanze Bonifer
Article
Hematology
Stephen J. Richards, Daniel Painter, Anita J. Dickinson, Morag Griffin, Talha Munir, Louise Arnold, Daniel Payne, Alexandra Pike, Petra Muus, Anita Hill, Darren J. Newton, Claire McKinley, Rachael Jones, Richard Kelly, Alex Smith, Eve Roman, Peter Hillmen
Summary: The study identified 197 patients with detectable PNH clones over 15 years, with 88% having aplastic anaemia, 8% classical PNH, and 3% myelodysplastic syndrome. The overall incidence rate was estimated at 0.35 cases per 100,000 people per year, equating to 220 newly diagnosed cases in the UK each year. The overall prevalence rate was 3.81 per 100,000, equating to an estimated 2400 prevalent cases in the UK.
EUROPEAN JOURNAL OF HAEMATOLOGY
(2021)
Article
Medical Laboratory Technology
Stephen J. Richards, Anita J. Dickinson, Darren J. Newton, Peter Hillmen
Summary: This study shows that PNH patients with multiple PNH clones do not always display the same abnormality across all cell lineages routinely tested. There is no simple explanation for this but is likely due to a combination of complex molecular, genetic and biochemical dysfunction in different blood cell types.
CYTOMETRY PART B-CLINICAL CYTOMETRY
(2022)