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Journal Articles

Splicing Control in Normal and Aberrant Erythropoiesis

Esther Obeng, MD PhD

Blood (2018) 132 (Supplement 1): SCI-47.

https://doi.org/10.1182/blood-2018-99-109414

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

A Study of Novel Beta Globin Mutation Associated with Dominant Beta-Thalassemia, Aberrant Erythroid Maturation and Differentiation Compounded with Hereditary Pyropoikilocytosis

Soo Jin Kim, MS, Jihyun Song, PhD, John D. Phillips, PhD, Noel Scott Reading, Christine Min, Julio Lautersztain, MD, Archana Agarwal, MD, Josef T. Prchal, MD

Blood (2017) 130 (Supplement 1): 2208.

https://doi.org/10.1182/blood.V130.Suppl_1.2208.2208

Published: 2017

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

Clinical Application of Massively Parallel Sequencing in the Diagnosis of Hereditary Hemolytic and Dyserythropoietic Anemias

Harry Lesmana, MD, Georgios E Christakopoulos, MD, Katie Giger Seu, PhD, Mary Risinger, PhD, Hatice Duzkale, MD MPH, PhD, Neha Dagaonkar, Kejian Zhang, MD, Theodosia A Kalfa, MD PhD

Blood (2016) 128 (22): 4746.

https://doi.org/10.1182/blood.V128.22.4746.4746

Published: 2016

Journal Articles

Red Cell Band 3 Content Evaluation By Eosin Maleimide (EMA) Fluorescence: Beyond Diagnosis of Dominant Hereditary Spherocytosis (HS)

Ahmar Urooj Zaidi, MD, Miguel Herrera-Martinez, BS, Gerard W. Goyette, Jr., BS, Steven Buck, MS, Manisha Gadgeel, MBBS, Arathi Mohan, Bulent Ozgonenel, MD, Michael U Callaghan, MD, Robert M. Johnson, PhD, Yaddanapudi Ravindranath, MBBS

Blood (2015) 126 (23): 3343.

https://doi.org/10.1182/blood.V126.23.3343.3343

Published: 2015

Journal Articles

Genotype-Phenotype Correlations in Hereditary Elliptocytosis (HE) and Hereditary Pyropoikilocytosis (HPP)

Omar Niss, MD, Satheesh Chonat, MD, Karol Kerr, MD, Patrick T. McGann, MD MS, Marya Obaid Almansoori, MD, Maa-Ohui Quarmyne, MBChB MS, Kejian Zhang, MD MBA, Theodosia A. Kalfa, MD PhD

Blood (2015) 126 (23): 3344.

https://doi.org/10.1182/blood.V126.23.3344.3344

Published: 2015

Journal Articles

A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anemia

Frances Smith, David Brawand, Laura Steedman, Matthew Oakley, Christopher Wall, Peter Rushton, Margaret Allchurch, Keith Sibson, Claire Jane Hemmaway, MD, Swee Lay Thein, MD DSc, David C. Rees, FRCP, FRCPath, MA, MBBS, Barnaby E. Clark, PhD

Blood (2015) 126 (23): 946.

https://doi.org/10.1182/blood.V126.23.946.946

Published: 2015

Journal Articles

A Novel Alpha Specrtin Mutation Causing Severe Innefective Erythropoiesis

Theodora Vatopoulou, BSc (Hons), MBChB,MRCP, Barnaby Clarke, PhD, Josu de la Fuente, MRCP, MRCPCH, FRCPath, Anil Dhawan, Sanjay Tewari, MBBS, MRCP, David Rees, FRCPath

Blood (2014) 124 (21): 4002.

https://doi.org/10.1182/blood.V124.21.4002.4002

Published: 2014

Journal Articles

The Novel PIEZO1 Mutation p.L2023V Is Causal for Hereditary Xerocytosis Resulting in Delayed Channel Inactivation and a Dehydrated Red Blood Cell Phenotype

Mary A Risinger, PhD, Edyta Glogowska, PhD, Amber Hogart Begtrup, PhD, Neha Dagaonkar, Satheesh Chonat, MD, Clinton H Joiner, MD PhD, Charles T. Quinn, MD, Theodosia A. Kalfa, MD PhD, Patrick G Gallagher, MD

Blood (2014) 124 (21): 741.

https://doi.org/10.1182/blood.V124.21.741.741

Published: 2014

Journal Articles

A Family with Hereditary Elliptocytosis: Variable Clinical Severity Caused by Three Mutations in the α-Spectrin Gene,

Paul Hubert Frans Franck, PhD, Cobie Postma, Marjan Veuger, PhD, Pierre Wijermans, MD, Frans A Kuypers, PhD

Blood (2011) 118 (21): 3167.

https://doi.org/10.1182/blood.V118.21.3167.3167

Published: 2011

Journal Articles

Novel Exon 2 Alpha Spectrin Mutation in a Caucasian Family with Pyropoikilocytosis, Elliptocytosis, and Normal Morphology: Three Phenotypes Due to Decreased Spectrin mRNA and Intragenic Crossover

Neeraj Agarwal, MD#, Sabina Swierczek#, PhD, Filipe R. Lorenzo, MD, PhD, Kubendran Naidoo, BScHons, Archana M. Agarwal, MD, Roberto H Nussenzveig, PhD, Jonathan Whisenant, MD, Theresa L. Coetzer, MD, Josef T. Prchal, MD

Blood (2008) 112 (11): 3840.

https://doi.org/10.1182/blood.V112.11.3840.3840

Published: 2008

Journal Articles

Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site

Massimiliano Gaetani, Sara Mootien, Sandra Harper, Patrick G. Gallagher, David W. Speicher

Blood (2008) 111 (12): 5712–5720.

https://doi.org/10.1182/blood-2007-11-122457

Published: 2008

Includes: Supplemental data

Journal Articles

Evaluation of the Spectrin Compartment Size in Normal and Diseased Red Blood Cells by Single Particle Tracking.

Gayani C. Kodippili, MSc, Jeff Spector, MSc, Caitlin Sullivan, Richard Labotka, MD, Ken Ritchie, PhD, Philip S. Low, PhD

Blood (2007) 110 (11): 143.

https://doi.org/10.1182/blood.V110.11.143.143

Published: 2007

Journal Articles

A Case of HPP with a Novel Combination of α and β Spectrin Mutations.

Kavita Natarajan, MBBS, Ferdane Kutlar, MD, Tao Li, MD, Patrick Gallagher, MD, Abdullah Kutlar, MD

Blood (2007) 110 (11): 1736.

https://doi.org/10.1182/blood.V110.11.1736.1736

Published: 2007

Journal Articles

Identification and Characterization of α-Spectrin Mutations Associated with Inherited Hemolytic Anemia.

Whitney Tolpinrud, BS, Massimiliano Gaetani, PhD, Yelena Maksimova, BS, Sara Mootien, PhD, Sandra Harper, PhD, Bernard G. Forget, MD, David W. Speicher, PhD, Patrick G. Gallagher, MD

Blood (2007) 110 (11): 1706.

https://doi.org/10.1182/blood.V110.11.1706.1706

Published: 2007

Journal Articles

A Novel Mutation of the α Spectrin Gene in a Family of Northern European Descent Is Associated with Three Different Phenotypes.

Neeraj Agarwal#, MD, Sabina Swierczek#, PhD, Kubendran Naidoo, BScHons, Josef T. Prchal, MD, Theresa L. Coetzer, PhD

Blood (2007) 110 (11): 1717.

https://doi.org/10.1182/blood.V110.11.1717.1717

Published: 2007

Journal Articles

A Position +5 Intronic Mutation in the α-Spectrin Gene Is Associated with Marked Deficiency of α-Spectrin Production in the First Reported Cases of Hereditary Pyropoikilocytosis.

Daniel B. Costa, M.D., Patrick G. Gallagher, M.D., Bernard G. Forget, M.D.

Blood (2004) 104 (11): 576.

https://doi.org/10.1182/blood.V104.11.576.576

Published: 2004

Journal Articles

Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis

M Garbarz, MC Lecomte, D Dhermy, C Feo, I Chaveroche, H Gautero, O Bournier, C Picat, A Goepp, P Boivin

Blood (1986) 67 (6): 1661–1667.

https://doi.org/10.1182/blood.V67.6.1661.1661

Published: 1986

NARROW

Splicing Control in Normal and Aberrant Erythropoiesis

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

A Study of Novel Beta Globin Mutation Associated with Dominant Beta-Thalassemia, Aberrant Erythroid Maturation and Differentiation Compounded with Hereditary Pyropoikilocytosis

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

Clinical Application of Massively Parallel Sequencing in the Diagnosis of Hereditary Hemolytic and Dyserythropoietic Anemias

Red Cell Band 3 Content Evaluation By Eosin Maleimide (EMA) Fluorescence: Beyond Diagnosis of Dominant Hereditary Spherocytosis (HS)

Genotype-Phenotype Correlations in Hereditary Elliptocytosis (HE) and Hereditary Pyropoikilocytosis (HPP)

A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anemia

A Novel Alpha Specrtin Mutation Causing Severe Innefective Erythropoiesis

The Novel PIEZO1 Mutation p.L2023V Is Causal for Hereditary Xerocytosis Resulting in Delayed Channel Inactivation and a Dehydrated Red Blood Cell Phenotype

A Family with Hereditary Elliptocytosis: Variable Clinical Severity Caused by Three Mutations in the α-Spectrin Gene,

Novel Exon 2 Alpha Spectrin Mutation in a Caucasian Family with Pyropoikilocytosis, Elliptocytosis, and Normal Morphology: Three Phenotypes Due to Decreased Spectrin mRNA and Intragenic Crossover

Structural and functional effects of hereditary hemolytic anemia-associated point mutations in the alpha spectrin tetramer site

Evaluation of the Spectrin Compartment Size in Normal and Diseased Red Blood Cells by Single Particle Tracking.

A Case of HPP with a Novel Combination of α and β Spectrin Mutations.

Identification and Characterization of α-Spectrin Mutations Associated with Inherited Hemolytic Anemia.

A Novel Mutation of the α Spectrin Gene in a Family of Northern European Descent Is Associated with Three Different Phenotypes.

A Position +5 Intronic Mutation in the α-Spectrin Gene Is Associated with Marked Deficiency of α-Spectrin Production in the First Reported Cases of Hereditary Pyropoikilocytosis.

Double inheritance of an alpha I/65 spectrin variant in a child with homozygous elliptocytosis

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American Society of Hematology

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