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Journal Articles

Congenital dyserythropoietic anemias

Achille Iolascon, Immacolata Andolfo, Roberta Russo

Blood (2020) 136 (11): 1274–1283.

https://doi.org/10.1182/blood.2019000948

Published: 2020

Journal Articles

Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR)

Omar Niss, MD, Robert B. Lorsbach, MD PhD, David K. Buchbinder, MD MSHS, Satheesh Chonat, MD, Morgan L. McLemore, MD, Timothy McCavit, MD, Jeffrey H Schwartz, MD, Jessica Meznarich, MD, Katie Seu, Wenying Zhang, MD PhD, Theodosia A. Kalfa, MD PhD

Blood (2019) 134 (Supplement_1): 3521.

https://doi.org/10.1182/blood-2019-128975

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

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

VPS4A mutations Cause a Syndrome with Dyserythropoiesis, Hemolytic Anemia, and Neurodevelopmental Delay

Katie Giger Seu, PhD, Lisa Trump, PhD, Sana Emberesh, MBBS, Robert B. Lorsbach, MD PhD, Clarissa E. Johnson, MD, Jessica Meznarich, MD, Hunter Underhill, MD PhD, Haripriya Sakthivel, Omar Niss, MD, Shannon Nortman, Lionel Blanc, PhD, Wenying Zhang, MD PhD, Carolyn Lutzko, PhD, Theodosia A. Kalfa, MD PhD

Blood (2019) 134 (Supplement_1): 339.

https://doi.org/10.1182/blood-2019-128230

Published: 2019

Journal Articles

Codanin-1 Mutations Engineered in Human Erythroid Cells Allow Investigation of Mechanisms Underlying Congenital Dyserythropoietic Anemia

Zachary C. Murphy, PhD, Michael Getman, MS, Jacquelyn Lillis, Laurie A. Steiner, MD

Blood (2019) 134 (Supplement_1): 3739.

https://doi.org/10.1182/blood-2019-127415

Published: 2019

Journal Articles

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Reena Das, MD, Manu Jamwal, PhD, Anu Aggarwal, PhD, Prashant Sharma, DM, Man Updesh Singh Sachdeva, MD, Deepak Bansal, MD, Sreejesh Sreedharanunni, DM, Narender Kumar, MD, Shano Naseem, MD, Jasmina Ahluwalia, MD, Neelam Varma, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD

Blood (2019) 134 (Supplement_1): 950.

https://doi.org/10.1182/blood-2019-126453

Published: 2019

Journal Articles

Peroxiredoxin II ( PRDX2 ) Is a Novel Candidate Gene for Congenital Dyserythropoietic Anemia

Myesa Emberesh, MBBS, Katie Giger Seu, PhD, Sana Emberesh, MBBS, Lisa Trump, Mary Risinger, PhD, Wenying Zhang, MD PhD, Ammar Husami, Carolyn Lutzko, PhD, Vinod Gidvani-Diaz, Robert B. Lorsbach, MD PhD, Theodosia A. Kalfa, MD PhD

Blood (2018) 132 (Supplement 1): 3605.

https://doi.org/10.1182/blood-2018-99-120056

Published: 2018

Journal Articles

A Review of 1000 Molecular Investigations of Rare Inherited Anaemia and Related Conditions with the Red Cell Gene Panel

Rachel Mayhew, Frances Smith, Laura Steedman, Nicholas Parkin, Eva Moldes Beiro, Peter Rushton, Alison Bybee, David Brawand, Judith Marsh, Austin G. Kulasekararaj, MBBS, MD MRCP, FRCPath, Shreyans Ghandi, Sahar Mansour, Ghulam Mufti, Antonio Pagliuca, Subarna Chakravorty, David C Rees, Barnaby Clark

Blood (2018) 132 (Supplement 1): 3609.

https://doi.org/10.1182/blood-2018-99-118799

Published: 2018

Journal Articles

Evaluation of Phenotype-Genotype Correlation in Two Common PIEZO1 Mutations p.R2456H and p.L2495_E2495dup

Mary Risinger, PhD, Vandy Black, MDMSc, Loan Hsieh, MD, Renee C. Prins, MD, Jill Menell, MD, Mohamad Badawi, MD, Cynthia Rutherford, MD, Karen L. Bride, MD PhD, Omar Niss, MD, Charles T. Quinn, MD, Katie Giger Seu, PhD, Wenying Zhang, MDPhD, Theodosia A. Kalfa, MD PhD

Blood (2018) 132 (Supplement 1): 1040.

https://doi.org/10.1182/blood-2018-99-117299

Published: 2018

Journal Articles

Whole Exome Sequencing Identifies a Novel Variant in the Pklr Gene Which Worsen the Anemia Status in a Congenital Dyserthropoietic Anemia Patient

Ching-Tien Peng, MD PhD

Blood (2018) 132 (Supplement 1): 4880.

https://doi.org/10.1182/blood-2018-99-112743

Published: 2018

Journal Articles

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Blood (2018) 132 (Supplement 1): 4936.

https://doi.org/10.1182/blood-2018-99-111609

Published: 2018

Journal Articles

Transcriptomic Analysis Reveals Erythroferrone Modulates BMP6 Signaling Pathways Involved in Iron Homeostasis and Metabolism

Reema Jasuja, PhD, Anagha Sawant, Debra D Pittman, MS, Jie Quan

Blood (2018) 132 (Supplement 1): 1049.

https://doi.org/10.1182/blood-2018-99-118724

Published: 2018

Journal Articles

"in the Patients' Hands"- a Structured Survey of Patient Voices to Prioritise Research Questions in Rare Inherited Anaemias: The James Lind Alliance Priority Setting Partnership

Jenny Welch, Nick Meade, Dominic Messenger, Amy Hunter, Anupama Rao, MD, Subarna Chakravorty, Rachel Wearmouth, Anju Chalin, Kristina Staley, Sheela Upadhyaya, Irene Roberts, MD, Noemi Roy, MBBCH, MD

Blood (2018) 132 (Supplement 1): 5876.

https://doi.org/10.1182/blood-2018-99-115404

Published: 2018

Journal Articles

The Spectrum of Genetic Defects in Indian Patients with Rare Congenital Anemias: Next Generation Sequencing Based Approach

Manu Jamwal, MSc, Anu Aggarwal, MSc, Prashant Sharma, DM, Deepak Bansal, MD, Pankaj Malhotra, MD, Arindam Maitra, PhD, Reena Das, MD

Blood (2018) 132 (Supplement 1): 2328.

https://doi.org/10.1182/blood-2018-99-116092

Published: 2018

Journal Articles

Striking Difference in Iron Utilization between Oral and Intravenous Iron in Various Anemias and Hemochromatosis

Annelies J. Van Vuren, MD, Joannes J.M. Marx, Emeritus Professor, Richard van Wijk, PhD, Eduard J. van Beers, MD PhD

Blood (2018) 132 (Supplement 1): 2338.

https://doi.org/10.1182/blood-2018-99-113030

Published: 2018

Journal Articles

Internuclear bridging outside of primary myelodysplasia and congenital dyserythropoietic anemia

Javier Alberto Rojas-Martínez, Rosario M. Morales-Camacho

Blood (2018) 132 (2): 236.

https://doi.org/10.1182/blood-2018-05-849232

Published: 2018

Journal Articles

Clinical Sequencing of 347 Children with Acquired and Inherited Bone Marrow Failure Syndromes

Blood (2017) 130 (Supplement 1): 2468.

https://doi.org/10.1182/blood.V130.Suppl_1.2468.2468

Published: 2017

Journal Articles

Dysregulated Transcriptional Upregulation of Cell-Cycle Regulators By KLF1 Mutation E325K Induces Cell-Cycle Arrest in Erythroid Cells Differentiated from the Congenital Dyserythropoietic Anemia (CDA)-Patient Specific Induced Pluripotent Stem Cells

Hiroshi Kohara, PhD, Taiju Utsugisawa, MD PhD, Hiromi Ogura, MD PhD, Ai Sugawara, B.Sc., Ogawa Yoshie, M.Sc., Chika Sakamoto, M.Sc., Hitoshi Kanno, MDPhD, Kenzaburo Tani, MD PhD

Blood (2017) 130 (Supplement 1): 2197.

https://doi.org/10.1182/blood.V130.Suppl_1.2197.2197

Published: 2017

Journal Articles

Detection of Gene Mutations in Patients with Clinically Suspected Heritary Spherocytosis By Next Generation Sequencing

Li Qin, PhD, Yujiao Jia, MD, Donglei Zhang, PhD, Kun Ru, MD PhD

Blood (2017) 130 (Supplement 1): 4740.

https://doi.org/10.1182/blood.V130.Suppl_1.4740.4740

Published: 2017

NARROW

Congenital dyserythropoietic anemias

Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR)

Pyruvate Kinase Deficiency Cases Mimicking Congenital Dyserythropoietic Anemia

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

VPS4A mutations Cause a Syndrome with Dyserythropoiesis, Hemolytic Anemia, and Neurodevelopmental Delay

Codanin-1 Mutations Engineered in Human Erythroid Cells Allow Investigation of Mechanisms Underlying Congenital Dyserythropoietic Anemia

Spectrum of Genetic Defects and Phenotype-Genotype Correlation in Dyserythropoietic Anemias: Bench to Bedside Approach in the Indian Scenario

Peroxiredoxin II ( PRDX2 ) Is a Novel Candidate Gene for Congenital Dyserythropoietic Anemia

A Review of 1000 Molecular Investigations of Rare Inherited Anaemia and Related Conditions with the Red Cell Gene Panel

Evaluation of Phenotype-Genotype Correlation in Two Common PIEZO1 Mutations p.R2456H and p.L2495_E2495dup

Whole Exome Sequencing Identifies a Novel Variant in the Pklr Gene Which Worsen the Anemia Status in a Congenital Dyserthropoietic Anemia Patient

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Transcriptomic Analysis Reveals Erythroferrone Modulates BMP6 Signaling Pathways Involved in Iron Homeostasis and Metabolism

"in the Patients' Hands"- a Structured Survey of Patient Voices to Prioritise Research Questions in Rare Inherited Anaemias: The James Lind Alliance Priority Setting Partnership

The Spectrum of Genetic Defects in Indian Patients with Rare Congenital Anemias: Next Generation Sequencing Based Approach

Striking Difference in Iron Utilization between Oral and Intravenous Iron in Various Anemias and Hemochromatosis

Internuclear bridging outside of primary myelodysplasia and congenital dyserythropoietic anemia

Clinical Sequencing of 347 Children with Acquired and Inherited Bone Marrow Failure Syndromes

Dysregulated Transcriptional Upregulation of Cell-Cycle Regulators By KLF1 Mutation E325K Induces Cell-Cycle Arrest in Erythroid Cells Differentiated from the Congenital Dyserythropoietic Anemia (CDA)-Patient Specific Induced Pluripotent Stem Cells

Detection of Gene Mutations in Patients with Clinically Suspected Heritary Spherocytosis By Next Generation Sequencing

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American Society of Hematology

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ASH Publications

American Society of Hematology

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