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Journal Articles

Comparison of α LEPRA and α LELY Co-Inheritance with a SPTA1 Whole Gene Deletion, a Family Study

Molly S. Hein, Lea Coon, MS, LCGC, Tavanna R. Porter, MS, LCGC, Rong He, MD, Michelle E. Savedra, MT(ASCP), Laura J. Train, BS, Linnea M. Baudhuin, PhD, Andre M. Oliveira, MD PhD, Phuong L. Nguyen, MD, James D. Hoyer, MD, Aruna Rangan, MD, Jennifer L. Oliveira, MD

Blood (2019) 134 (Supplement_1): 2228.

https://doi.org/10.1182/blood-2019-125691

Published: 2019

Journal Articles

Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

Blood (2019) 134 (Supplement_1): 2175.

https://doi.org/10.1182/blood-2019-123069

Published: 2019

Journal Articles

Macrophage Hypercellularity Accompanies Erythroid Hyperplasia in Sickle Cell Mice and during Recovery from Blood Loss in Wild Type Mice

Oluwabukola Gbotosho, BSc, MSc, PhD, Maria G Kapetanaki, PhD, Samit Ghosh, Frances Weidert, MS, Grant C. Bullock, MD PhD, Solomon Fiifi Ofori-Acquah, Gregory J Kato, MD

Blood (2019) 134 (Supplement_1): 3528.

https://doi.org/10.1182/blood-2019-127224

Published: 2019

Journal Articles

Decreased Activity and Stability of Pyruvate Kinase in Hereditary Hemolytic Anemia: A Potential Target for Therapy By AG-348 (Mitapivat), an Allosteric Activator of Red Blood Cell Pyruvate Kinase

Minke A.E. Rab, MD, Brigitte A. van Oirschot, Stephanie van Straaten, MD PhD, Bart J. Biemond, MD PhD, Jennifer Bos, Penelope A. Kosinski, MS, Charles Kung, PhD, Eduard J. van Beers, MD PhD, Richard van Wijk, PhD

Blood (2019) 134 (Supplement_1): 3506.

https://doi.org/10.1182/blood-2019-129996

Published: 2019

Journal Articles

Long-Term Safety and Efficacy of Mitapivat (AG-348), a Pyruvate Kinase Activator, in Patients with Pyruvate Kinase Deficiency: The DRIVE PK Study

Rachael F. Grace, MD, D. Mark Layton, MB BS, FRCP, FRCPCH, Frédéric Galactéros, MD PhD, Wilma Barcellini, MD, Eduard J. van Beers, MD PhD, Hassan M. Yaish, MD, Yaddanapudi Ravindranath, MBBS, Kevin H. M. Kuo, MDMSc,FRCPC, Sujit Sheth, MD, Janet L. Kwiatkowski, MD MSCE, Lei Hua, PhD, Peter F. Hawkins, PhD, Chris Mix, MD, Bertil Glader, MD PhD

Blood (2019) 134 (Supplement_1): 3512.

https://doi.org/10.1182/blood-2019-123406

Published: 2019

Journal Articles

Hereditary Hemolytic Anemias Other Than Thalassemia: Single Center Experience

Gul Nihal Ozdemir, MD, Mehmet Akif Kilic, MD

Blood (2019) 134 (Supplement_1): 4855.

https://doi.org/10.1182/blood-2019-121702

Published: 2019

Journal Articles

Erythropoietin Is Associated with a Decline in the iFGF23/cFGF23 Ratio in Patients with Various Hereditary Hemolytic Anemias

Annelies J. Van Vuren, MD, Michele F. Eisenga, MD PhD, Stephanie van Straaten, MD PhD, Andreas Glenthøj, MD PhD, Carlo A.J.M. Gaillard, MD PhD, Stephan J.L. Bakker, MD PhD, Martin H. de Borst, MD PhD, Richard van Wijk, PhD, Eduard J. van Beers, MD PhD

Blood (2019) 134 (Supplement_1): 4793.

https://doi.org/10.1182/blood-2019-124074

Published: 2019

Journal Articles

Pyruvate Kinase Deficiency Cases Mimicking Congenital Dyserythropoietic Anemia

Sule Unal, MD, Tekin Aksu, MD, Cagrı Coskun, MD, Fatma Gumruk, MD

Blood (2019) 134 (Supplement_1): 4794.

https://doi.org/10.1182/blood-2019-124272

Published: 2019

Journal Articles

A Unique Monocyte Transcriptome Discriminates Sickle Cell Disease from Other Hereditary Hemolytic Anemias and Shows the Particular Importance of Lipid and Interferon Signaling

Annelies J. Van Vuren, MD, Stephanie van Straaten, MD PhD, Michal Mokry, PhD, Richard van Wijk, PhD, Eduard J. van Beers, MD PhD

Blood (2019) 134 (Supplement_1): 980.

https://doi.org/10.1182/blood-2019-124070

Published: 2019

Journal Articles

Proton Pump Inhibition for Secondary Hemochromatosis in Hereditary Anemia, a Phase III Placebo Controlled Randomized Cross-over Trial in Progress

Annelies J. Van Vuren, MD, Bart J. Biemond, MD PhD, Jean-Louis Kerkhoffs, MD PhD, Saskia E.M. Schols, MD PhD, A. W. Rijneveld, MD PhD, Erfan Nur, MD PhD, Richard van Wijk, PhD, Tim Leiner, MD PhD, Joannes J.M. Marx, Emeritus Professor, Eduard J. van Beers, MD PhD

Blood (2019) 134 (Supplement_1): 960.

https://doi.org/10.1182/blood-2019-124059

Published: 2019

Journal Articles

Phosphatidylserine-Exposing Extracellular Vesicles after Splenectomy Are Associated with Increased D-Dimers and Fibrin Generation in Hereditary Hemolytic Anemia

Stephanie Van Straaten, MD, Chi Hau, Najat Hajji, Jill Verhoeven, Roger Schutgens, MD PhD MSc, Wouter van Solinge, PhD, Richard van Wijk, PhD, Rienk Nieuwland, PhD, Eduard J. van Beers, MD PhD

Blood (2018) 132 (Supplement 1): 630.

https://doi.org/10.1182/blood-2018-99-110918

Published: 2018

Journal Articles

Genotype-Response Correlation in DRIVE PK, a Phase 2 Study of AG-348 in Patients with Pyruvate Kinase Deficiency

Charles Kung, PhD, Penelope A. Kosinski, MS, Heidi Mangus, BS, Lei Hua, PhD, Gary Connor, Michelle Mobilia, BS, Karen Sullivan, BA, Sasha Frye, BS, Marie-Hélène Jouvin, MD, Rachael F. Grace, MD, Bertil Glader, MD, Chris Bowden, MD

Blood (2018) 132 (Supplement 1): 3621.

https://doi.org/10.1182/blood-2018-99-111166

Published: 2018

Journal Articles

Towards Mechanical Clinical Markers in Sickle Cell Disease: Dynamics of Red Blood Cells in Low Shear Flow

Catherine Badens, Pharm D, PhD, Scott Atwell, PhD, Alexander Hornung, PhD, Imane Agouti, PhD, Anne Charrier, PhD, Isabelle Thuret, MD, Emmanuele Helfer, PhD, Emmanuelle Bernit, MD, Annie Viallat, PhD

Blood (2018) 132 (Supplement 1): 4914.

https://doi.org/10.1182/blood-2018-99-113298

Published: 2018

Journal Articles

Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia

Kimberly Lezon-Geyda, PhD, Vincent P Schulz, PhD, Yelena Maksimova, MS, Patrick G. Gallagher, MD

Blood (2018) 132 (Supplement 1): 503.

https://doi.org/10.1182/blood-2018-99-117752

Published: 2018

Journal Articles

An Unexpectedly High Frequency of Sptb Gene Mutation ( SPTB exon 29: c.6055T>C (p.Ser2019Pro; Spectrin Thai)) with a Single Origin in Thailand Suggesting a New Model of Red Blood Cell Trait Against Malarial Pressure

Supachai Ekwattanakit, PhD MD, Jiraporn Korchuenjit, BSc, Thidarat Suksangpleng, PhD, Suchada Riolueang, MSc, Tana Taechalertpaisarn, PhD, Parichat Prommana, MSc, Pakatip Silapamongkolkul, MD, Komgrid Charngkaew, MD, Sittiruk Roytrakul, PhD, Chairat Uthaipibull, PhD, Vip Viprakasit, MD DPhil

Blood (2018) 132 (Supplement 1): 2322.

https://doi.org/10.1182/blood-2018-99-110982

Published: 2018

Journal Articles

Use of Next Generation Sequencing Panel for Routine Diagnosis of Hereditary Hemolytic Anemias

Archana M Agarwal, MD, Jay L Patel, MD, Adam Clayton, PhD, Noel Scott Reading, PhD

Blood (2018) 132 (Supplement 1): 2325.

https://doi.org/10.1182/blood-2018-99-112589

Published: 2018

Journal Articles

Effect of Ljpc-401 (synthetic human hepcidin) on Iron Parameters in Healthy Adults

John Porter, MA MD FRCP FRCPath, Kris Kowdley, MD, Ali Taher, MD PhD, Jeffrey Vacirca, MD, Zancong Shen, PhD, Steve Chen, MD, Lakhmir Chawla, MD, George Tidmarsh, MD PhD

Blood (2018) 132 (Supplement 1): 2336.

https://doi.org/10.1182/blood-2018-99-110885

Published: 2018

Journal Articles

Heme Synthesis Is Inhibited in Erythroid Cells Derived from Beta-Thalassemic Mice

Daniel Garcia dos Santos, PhD, Amel Hamdi, PhD, Prem Ponka, MD PhD

Blood (2017) 130 (Supplement 1): 3494.

https://doi.org/10.1182/blood.V130.Suppl_1.3494.3494

Published: 2017

Journal Articles

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

Elisa Fermo, PhD, Cristina Vercellati, PhD, Anna Paola Marcello, PhD, Ebru Yilmaz Keskin, MD, Aurora Feliu Torres, MD, Silverio Perrotta, Tekin Aksu, MD, Anna Zaninoni, BS, Valentina Brancaleoni, MSc, Richard van Wijk, PhD, Sultan Aydin Koker, MD, Alberto Zanella, MD, Agostino Cortelezzi, Prof, Wilma Barcellini, MD, Paola Bianchi, BSc, PhD

Blood (2017) 130 (Supplement 1): 3480.

https://doi.org/10.1182/blood.V130.Suppl_1.3480.3480

Published: 2017

Journal Articles

Results Update from the DRIVE PK Study: Effects of AG-348, a Pyruvate Kinase Activator, in Patients with Pyruvate Kinase Deficiency

Blood (2017) 130 (Supplement 1): 2194.

https://doi.org/10.1182/blood.V130.Suppl_1.2194.2194

Published: 2017

NARROW

Comparison of α LEPRA and α LELY Co-Inheritance with a SPTA1 Whole Gene Deletion, a Family Study

Comorbidities and Complications in Adults with Pyruvate Kinase Deficiency

Macrophage Hypercellularity Accompanies Erythroid Hyperplasia in Sickle Cell Mice and during Recovery from Blood Loss in Wild Type Mice

Decreased Activity and Stability of Pyruvate Kinase in Hereditary Hemolytic Anemia: A Potential Target for Therapy By AG-348 (Mitapivat), an Allosteric Activator of Red Blood Cell Pyruvate Kinase

Long-Term Safety and Efficacy of Mitapivat (AG-348), a Pyruvate Kinase Activator, in Patients with Pyruvate Kinase Deficiency: The DRIVE PK Study

Hereditary Hemolytic Anemias Other Than Thalassemia: Single Center Experience

Erythropoietin Is Associated with a Decline in the iFGF23/cFGF23 Ratio in Patients with Various Hereditary Hemolytic Anemias

Pyruvate Kinase Deficiency Cases Mimicking Congenital Dyserythropoietic Anemia

A Unique Monocyte Transcriptome Discriminates Sickle Cell Disease from Other Hereditary Hemolytic Anemias and Shows the Particular Importance of Lipid and Interferon Signaling

Proton Pump Inhibition for Secondary Hemochromatosis in Hereditary Anemia, a Phase III Placebo Controlled Randomized Cross-over Trial in Progress

Phosphatidylserine-Exposing Extracellular Vesicles after Splenectomy Are Associated with Increased D-Dimers and Fibrin Generation in Hereditary Hemolytic Anemia

Genotype-Response Correlation in DRIVE PK, a Phase 2 Study of AG-348 in Patients with Pyruvate Kinase Deficiency

Towards Mechanical Clinical Markers in Sickle Cell Disease: Dynamics of Red Blood Cells in Low Shear Flow

Altered Splicing from a Mutated Alternate Branch Point Is Common in Severe Alpha-Spectrin Linked Inherited Anemia

An Unexpectedly High Frequency of Sptb Gene Mutation ( SPTB exon 29: c.6055T>C (p.Ser2019Pro; Spectrin Thai)) with a Single Origin in Thailand Suggesting a New Model of Red Blood Cell Trait Against Malarial Pressure

Use of Next Generation Sequencing Panel for Routine Diagnosis of Hereditary Hemolytic Anemias

Effect of Ljpc-401 (synthetic human hepcidin) on Iron Parameters in Healthy Adults

Heme Synthesis Is Inhibited in Erythroid Cells Derived from Beta-Thalassemic Mice

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

Results Update from the DRIVE PK Study: Effects of AG-348, a Pyruvate Kinase Activator, in Patients with Pyruvate Kinase Deficiency

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American Society of Hematology

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American Society of Hematology

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