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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

Oryzocytosis: A Novel Morphological Variant of Hereditary Elliptocytosis Associated with a Novel Mutation in β-Spectrin ( SPTB c154 C>T p.Arg52Trp)

Alexander Glaros, MD, Manisha Gadgeel, MBBS, MS, Shruti Bagla, PhD, Steven Buck, MS, Roland Chu, MD, Yaddanapudi Ravindranath, MBBS, Brian Edwards, PhD, Asmita Vaishnav

Blood (2019) 134 (Supplement_1): 3509.

https://doi.org/10.1182/blood-2019-131219

Published: 2019

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

A Novel α-Thalassemia Screening Scheme in Neonates with Higher Sensitivity and Specificity Using a Combination of Hb Bart's Quantity and Red Blood Cell Indices

Thidarat Suksangpleng, PhD, Suchada Riolueang, MSc, Jiraporn Korchuenjit, BSc, Supachai Ekwattanakit, PhD MD, Vip Viprakasit, MD DPhil

Blood (2018) 132 (Supplement 1): 1059.

https://doi.org/10.1182/blood-2018-99-118216

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

Identification of a Digenic Inheritance of Pklr and KLF1 Mutations Resulting in Hemolytic Anemia in a Neonate from a Study of Genotype-Phenotype Correlation of Globin, Pklr and KLF1 in Thai Patients with Pyruvate Kinase (PK) Deficiency

Supachai Ekwattanakit, BSc, PhD MD, Suchada Riolueang, M.Sc., Kalaya Tachavanich, Hitoshi Kanno, MDPhD, Vip Viprakasit, MD DPhil, Thidarat Suksangpleng, PhD, Vorravarn S Tanphaichitr

Blood (2017) 130 (Supplement 1): 3477.

https://doi.org/10.1182/blood.V130.Suppl_1.3477.3477

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

Generation and Functional Analysis of Congenital Dyserythropoietic Anemia (CDA) Patient-Specific Induced Pluripotent Stem Cells

Hiroshi Kohara, PhD, Hiromi Ogura, MD PhD, Takako Aoki, MLS, Chika Sakamoto, Yoshie Ogawa, Shohei Miyamoto, PhD, Hitoshi Kanno, MD PhD, Kenzaburo Tani, MD PhD

Blood (2016) 128 (22): 2426.

https://doi.org/10.1182/blood.V128.22.2426.2426

Published: 2016

Journal Articles

Using a Next Generation Sequencing Panel to Discover the Obscure Causes of Hereditary Hemolytic Anemias

Archana M Agarwal, MD, N. Scott Reading, PhD, Kimberly Frizzell, PhD, Wei Shen, PhD, Shelly Sorrells, PhD, Mohamed E Salama, MD, Josef T. Prchal, MD, Hassan M. Yaish, Jay L Patel, MD, Robert D. Christensen, MD

Blood (2016) 128 (22): 2433.

https://doi.org/10.1182/blood.V128.22.2433.2433

Published: 2016

Journal Articles

The Phenotypic Spectrum of Pyruvate Kinase Deficiency (PKD) from the PKD Natural History Study (NHS): Description of Four Severity Groups By Anemia Status

Blood (2015) 126 (23): 2136.

https://doi.org/10.1182/blood.V126.23.2136.2136

Published: 2015

Journal Articles

Alu-Element Insertion in Pklr Gene As a Novel Cause of Severe Hereditary Nonspherocytic Hemolytic Anemia

Harry Lesmana, MD, Lisa Dyer, PhD, Ping Zhou, Xia Li, PhD, James Denton, MS, Satheesh Chonat, MD, Kejian Zhang, MD MBA, Robert J. Hopkin, MD, Theodosia A. Kalfa, MD PhD

Blood (2015) 126 (23): 3349.

https://doi.org/10.1182/blood.V126.23.3349.3349

Published: 2015

Journal Articles

Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study with Genotype - Phenotype Correlation

Mohsen Saleh Elalfy, Amira Adly, Lorena Duca, Tarek Kamal

Blood (2015) 126 (23): 4534.

https://doi.org/10.1182/blood.V126.23.4534.4534

Published: 2015

Journal Articles

A Long-Term Phenotype Analysis Of 51 Patients With Upshaw–Schulman Syndrome In Japan, With Special References To Pregnancy and Renal Failure That Requires Hemodialysis

Yoshihiro Fujimura, MD, PhD, Yumi Yoshii, MD, Masanori Matsumoto, MD, PhD, Ayami Isonishi, BS, Masaki Hayakawa, MD, Yoko Yoshida, MS, Hideo Yagi, MD, PhD, Koichi Kokame, PhD, Toshiyuki Miyata, PhD

Blood (2013) 122 (21): 3545.

https://doi.org/10.1182/blood.V122.21.3545.3545

Published: 2013

Journal Articles

Significance of Low Levels of Glucose-6-Phosphate Dehydrogenase Levels in Pregnancy

Rangaswamy Chintapatla, MD, Hrvoje Melinscak, MD, Mala Varma, MD

Blood (2012) 120 (21): 5165.

https://doi.org/10.1182/blood.V120.21.5165.5165

Published: 2012

Journal Articles

Retrospective Review of Erythropoietin Therapy Versus Supportive Care in Newborns with Hereditary Spherocytosis (HS): Difficulties Implementing Trial Results Into Clinical Practice

Jacqueline F. Morrison, Ellis J. Neufeld, MD, PhD, Rachael F. Grace, MD

Blood (2011) 118 (21): 2066.

https://doi.org/10.1182/blood.V118.21.2066.2066

Published: 2011

Journal Articles

A Case of Congenital Red Cell Pyruvate Kinase Deficiency Associated with Hereditary Spherocytosis

Cristina Vercellati, PhD, Anna Paola Maria Luisa Marcello, PhD, Elisa Fermo, PhD, Paola Bianchi, PhD, Carla Boschetti, Alessandra Iurlo, M.D., Alberto Zanella, M.D., Wilma Barcellini, MD

Blood (2011) 118 (21): 5272.

https://doi.org/10.1182/blood.V118.21.5272.5272

Published: 2011

Journal Articles

Molecular characterization of the First Italian Variant of Phosphoglycerate Kinase Deficiency

Paola Bianchi, M Sc, Elisa Fermo, M Sc, Luana Mandarà, M.D., Cristina Vercellati, PhD, Anna Paola Maria Luisa Marcello, PhD, Agostino Cortelezzi, MD, Wilma Barcellini, MD, Alberto Zanella, M.D.

Blood (2011) 118 (21): 5270.

https://doi.org/10.1182/blood.V118.21.5270.5270

Published: 2011

Journal Articles

Evaluation of the Role of Flow Cytometry as a Diagnostic Tool for Hereditary Spherocytosis

Nalini K Pati, MBBS, MD, DNB, Mary M Sartor, BSc, Sue Wong, Adrienne Nemet, Kenneth Francis Bradstock, MB, FRACP, FRCPA, PhD

Blood (2008) 112 (11): 5381.

https://doi.org/10.1182/blood.V112.11.5381.5381

Published: 2008

Journal Articles

Coexistence of Congenital Red Cell Pyruvate Kinase Deficiency and Hereditary Stomatocytosis.

Anna P. Marcello, PhD, Cristina Vercellati, PhD, Elisa Fermo, PhD, Paola Bianchi, PhD, Wilma Barcellini, MD, Alberto Zanella, MD

Blood (2007) 110 (11): 1738.

https://doi.org/10.1182/blood.V110.11.1738.1738

Published: 2007

Journal Articles

Natural History of 33 Patients with Upshaw-Schulman Syndrome Has Revealed That All the Gravida Develop Thrombocytopenia, Often Followed by Thrombotic Microangiopathy with Stillbirth.

Blood (2007) 110 (11): 3211.

https://doi.org/10.1182/blood.V110.11.3211.3211

Published: 2007

NARROW

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

Oryzocytosis: A Novel Morphological Variant of Hereditary Elliptocytosis Associated with a Novel Mutation in β-Spectrin ( SPTB c154 C>T p.Arg52Trp)

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

A Novel α-Thalassemia Screening Scheme in Neonates with Higher Sensitivity and Specificity Using a Combination of Hb Bart's Quantity and Red Blood Cell Indices

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

Identification of a Digenic Inheritance of Pklr and KLF1 Mutations Resulting in Hemolytic Anemia in a Neonate from a Study of Genotype-Phenotype Correlation of Globin, Pklr and KLF1 in Thai Patients with Pyruvate Kinase (PK) Deficiency

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

Generation and Functional Analysis of Congenital Dyserythropoietic Anemia (CDA) Patient-Specific Induced Pluripotent Stem Cells

Using a Next Generation Sequencing Panel to Discover the Obscure Causes of Hereditary Hemolytic Anemias

The Phenotypic Spectrum of Pyruvate Kinase Deficiency (PKD) from the PKD Natural History Study (NHS): Description of Four Severity Groups By Anemia Status

Alu-Element Insertion in Pklr Gene As a Novel Cause of Severe Hereditary Nonspherocytic Hemolytic Anemia

Diet Challenge in G6PD Deficient Egyptian Children: A One- Year Prospective Single Center Study with Genotype - Phenotype Correlation

A Long-Term Phenotype Analysis Of 51 Patients With Upshaw–Schulman Syndrome In Japan, With Special References To Pregnancy and Renal Failure That Requires Hemodialysis

Significance of Low Levels of Glucose-6-Phosphate Dehydrogenase Levels in Pregnancy

Retrospective Review of Erythropoietin Therapy Versus Supportive Care in Newborns with Hereditary Spherocytosis (HS): Difficulties Implementing Trial Results Into Clinical Practice

A Case of Congenital Red Cell Pyruvate Kinase Deficiency Associated with Hereditary Spherocytosis

Molecular characterization of the First Italian Variant of Phosphoglycerate Kinase Deficiency

Evaluation of the Role of Flow Cytometry as a Diagnostic Tool for Hereditary Spherocytosis

Coexistence of Congenital Red Cell Pyruvate Kinase Deficiency and Hereditary Stomatocytosis.

Natural History of 33 Patients with Upshaw-Schulman Syndrome Has Revealed That All the Gravida Develop Thrombocytopenia, Often Followed by Thrombotic Microangiopathy with Stillbirth.

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American Society of Hematology

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American Society of Hematology

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