Anna Conrey
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View article: Mitapivat improves red blood cell integrity by reducing membrane ubiquitination accumulation
Mitapivat improves red blood cell integrity by reducing membrane ubiquitination accumulation Open
Background: The ubiquitin-proteasome system (UPS)is essential for maintaining red blood cell (RBC) membrane homeostasis by degrading damaged and misfolded proteins, thus preventing the accumulation of potentially harmful protein aggregates…
View article: A Machine Learning-Based Workflow for Predicting Transplant Outcome in Patients with Sickle Cell Disease
A Machine Learning-Based Workflow for Predicting Transplant Outcome in Patients with Sickle Cell Disease Open
Introduction: Sickle cell disease (SCD) is a prevalent life-threatening condition with limited therapeutic options. A typical feature of the disease is the wide spectrum of clinical severity that will become more apparent as patients age. …
View article: The Amyloidogenic Transthyretin V122I Variant Increase Severity of Cardiac Phenotype and Mortality in Sickle Cell Disease
The Amyloidogenic Transthyretin V122I Variant Increase Severity of Cardiac Phenotype and Mortality in Sickle Cell Disease Open
The amyloidogenic V122I variant (valine to isoleucine substitution at position 122) of the transthyretin (TTR) gene is carried almost exclusively in people of African descent, about 3% African-Americans carry the variant. In the general po…
View article: 8-Oxoguanine DNA Glycosylase 1 Recruits Transcription Factor STAT1 to Promote the Inflammatory Responses in Sickle Cell Disease
8-Oxoguanine DNA Glycosylase 1 Recruits Transcription Factor STAT1 to Promote the Inflammatory Responses in Sickle Cell Disease Open
A key intermediate in the inflammatory pathway is 7,8-dihydro-8-oxoguanine (8-oxoG), the most frequent oxidation DNA product of reactive oxygen species (ROS). In the process of repair and release of 8-oxoG from the genome, 8-Oxoguanine-DNA…
View article: Duffy Status and Hydroxyurea Dosing in Adult Patients with Sickle Cell Disease: A Potential for Iatrogenic Harm?
Duffy Status and Hydroxyurea Dosing in Adult Patients with Sickle Cell Disease: A Potential for Iatrogenic Harm? Open
Introduction: A lower absolute neutrophil count (ANC) is associated with the variant rs2814778 (c.1-67T>C) in the promotor of the ACKR1 gene. Homozygosity for rs2814778 results in the Duffy null phenotype. Duffy null patients have norma…
View article: A machine learning‐based workflow for predicting transplant outcomes in patients with sickle cell disease
A machine learning‐based workflow for predicting transplant outcomes in patients with sickle cell disease Open
Summary Allogeneic haematopoietic cell transplantation (HCT) with HLA‐matched sibling donor remains the most established curative therapeutic option for patients with sickle cell disease (SCD). However, it is not without risks, highlightin…
View article: Activating pyruvate kinase improves red blood cell integrity by reducing band 3 tyrosine phosphorylation
Activating pyruvate kinase improves red blood cell integrity by reducing band 3 tyrosine phosphorylation Open
In a phase 1 study (NCT04000165), we established proof of concept for activating pyruvate kinase (PK) in sickle cell disease (SCD) as a viable antisickling therapy. AG-348 (mitapivat), a PK activator, increased adenosine triphosphate (ATP)…
View article: Relationships Between Markers of Iron Status and Hematological Parameters in Patients With Sickle Cell Disease
Relationships Between Markers of Iron Status and Hematological Parameters in Patients With Sickle Cell Disease Open
Based on the relationship between the intracellular concentration of sickle hemoglobin S (HbS) and the delay that occurs prior to the onset of sickling following deoxygenation, targeting the intracellular HbS concentration is a recognized …
View article: Longitudinal Characterization of Hemodynamic Changes with Multimodal Optical Techniques in Patients with Sickle Cell Disease Treated with Mitapivat
Longitudinal Characterization of Hemodynamic Changes with Multimodal Optical Techniques in Patients with Sickle Cell Disease Treated with Mitapivat Open
The physiological impacts of sickle cell disease (SCD) are widespread and severe if left untreated. Sickled RBCs initiate vaso-occlusion (VOC) and have altered biomechanical properties that negatively affect blood rheology and microvascula…
View article: Long-Term Safety and Efficacy of Mitapivat, an Oral Pyruvate Kinase Activator, in Adults with Sickle Cell Disease: Extension of a Phase 1 Dose Escalation Study
Long-Term Safety and Efficacy of Mitapivat, an Oral Pyruvate Kinase Activator, in Adults with Sickle Cell Disease: Extension of a Phase 1 Dose Escalation Study Open
BACKGROUND In a Phase I study (NCT04000165, Xu et al, 2022), we showed that mitapivat, an investigational oral allosteric activator of pyruvate kinase (PK), demonstrated an acceptable safety and tolerability profile at multiple ascending d…
View article: Phenotypic screening of the ReFRAME drug repurposing library to discover new drugs for treating sickle cell disease
Phenotypic screening of the ReFRAME drug repurposing library to discover new drugs for treating sickle cell disease Open
Stem cell transplantation and genetic therapies offer potential cures for patients with sickle cell disease (SCD), but these options require advanced medical facilities and are expensive. Consequently, these treatments will not be availabl…
View article: Phenotypic screening of the ReFrame Drug Repurposing Library to discover new drugs for treating sickle cell disease
Phenotypic screening of the ReFrame Drug Repurposing Library to discover new drugs for treating sickle cell disease Open
Stem-cell transplantation and genetic therapies offer potential cures for patients with sickle cell disease (SCD) but these options require advanced medical facilities and are expensive. Consequently, these treatments will not be available…
View article: A phase 1 dose escalation study of the pyruvate kinase activator mitapivat (AG-348) in sickle cell disease
A phase 1 dose escalation study of the pyruvate kinase activator mitapivat (AG-348) in sickle cell disease Open
Polymerization of deoxygenated hemoglobin S underlies the pathophysiology of sickle cell disease (SCD). In activating red blood cell pyruvate kinase and glycolysis, mitapivat (AG-348) increases adenosine triphosphate (ATP) levels and decre…
View article: Safety of liver biopsy in patients with sickle cell related liver disease: A single‐center experience
Safety of liver biopsy in patients with sickle cell related liver disease: A single‐center experience Open
Supplementary Table 1: Definition of Complications Supplemental Table 2: Baseline characteristics of the study cohort Supplementary Table 3: Comparison of baseline characteristics in patients with and without liver biopsy complications Sup…
View article: Evaluation of Hepatic Iron Overload Using a Contemporary 0.<scp>55 T MRI</scp> System
Evaluation of Hepatic Iron Overload Using a Contemporary 0.<span>55 T MRI</span> System Open
Background MRI T2* and R2* mapping have gained clinical acceptance for noninvasive assessment of iron overload. Lower field MRI may offer increased measurement dynamic range in patients with high iron concentration and may potentially incr…
View article: Treatment of sickle cell disease by increasing oxygen affinity of hemoglobin
Treatment of sickle cell disease by increasing oxygen affinity of hemoglobin Open
The issue of treating sickle cell disease with drugs that increase hemoglobin oxygen affinity has come to the fore with the US Food and Drug Administration approval in 2019 of voxelotor, the only antisickling drug approved since hydroxyure…
View article: Computer Algorithm‐Based Hydroxyurea Dosing Facilitates Titration to Maximum Tolerated Dose in Sickle Cell Anemia
Computer Algorithm‐Based Hydroxyurea Dosing Facilitates Titration to Maximum Tolerated Dose in Sickle Cell Anemia Open
Adults with sickle cell disease (SCD) experience acute and chronic complications and die prematurely. When taken at maximum tolerated dose (MTD), hydroxyurea prolongs survival; however, it has not consistently reversed organ dysfunction. P…
View article: Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp <i>HBB</i> deletion
Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp <i>HBB</i> deletion Open
Background Mutations of HBB give rise to two prevalent haemoglobin disorders—sickle cell disease (SCD) and β-thalassaemia. While SCD is caused by a single base substitution, nearly 300 mutations that downregulate expression of HBB have bee…
View article: Sickle related events following cardiac catheterisation: risk implication for other invasive procedures
Sickle related events following cardiac catheterisation: risk implication for other invasive procedures Open
Sickle cell disease (SCD) is an autosomal recessive disease caused by a single point mutation in the HBB gene, resulting in the substitution of glutamic acid by valine. Morbidity and mortality in SCD arises from recurrent acute vaso-occlus…
View article: Riociguat use in sickle cell related chronic thromboembolic pulmonary hypertension: A case series
Riociguat use in sickle cell related chronic thromboembolic pulmonary hypertension: A case series Open
Adults with sickle cell disease can develop pulmonary hypertension from a multitude of etiologies. Classified as WHO Group 5, there are no therapies approved for the treatment of sickle cell disease‐pulmonary hypertension. Thromboembolic d…
View article: Central sensitization associated with low fetal hemoglobin levels in adults with sickle cell anemia
Central sensitization associated with low fetal hemoglobin levels in adults with sickle cell anemia Open
Pain is the hallmark of sickle cell anemia (SCA), presenting as recurrent acute events or chronic pain. Central sensitization, or enhanced excitability of the central nervous system, alters pain processing and contributes to the maintenanc…