Hemoglobinopathies and Related Disorders

Effect of the LSD1 Inhibitor RN-1 on gamma;-globin and Global Gene Expression during Erythroid Differentiation in Baboons (Papio anubis)

This study investigates the effect of the LSD1 inhibitor RN-1 on gamma-globin and global gene expression during erythroid differentiation in baboons, finding increased gamma-globin and specific gene expression changes.

Alpha globin gene copy number and incident ischemic stroke risk among Black Americans

This study examines the association between alpha globin gene copy number and ischemic stroke risk in Black Americans, finding no significant association.

Engineering of the Endogenous HBD promoter increases HbA2

This study uses CRISPR-Cas9 to edit the endogenous {delta}-globin promoter to increase HbA2 expression in human erythroid cells, showing that multiple transcription factor elements are required for effective upregulation.

Gut microbiota and metabolites drive chronic sickle cell disease pain

The paper identifies gut microbiota and metabolites as drivers of chronic sickle cell disease pain by altering vagus nerve activity.

The spectrum of rare and novel indel mutations responsible for β Thalassemia in eastern India

The paper identifies rare and novel indel mutations in β Thalassemia patients in eastern India using molecular methods and highlights the limitations of HPLC screening.

Finding Consensus miRNAs Silencing KLF1 Expression as A Promising Therapeutic Option of Sickle Cell Anemia

This study identifies hsa-miR-330-5p as a key miRNA targeting KLF1 and provides a miRNA sponge design for therapeutic silencing in sickle cell anemia.

Communicating sickle cell trait results after newborn screening: Approaches and implications to families

This study explores family perspectives on communicating sickle cell trait results through newborn screening and identifies key considerations for effective genetic counseling.

Variation and impact of polygenic hematological traits in monogenic sickle cell disease

The paper evaluates polygenic trait scores for hematological traits in sickle cell disease patients, finding limited predictive power for complications but significant associations for fetal hemoglobin.

Salubrinal induces fetal hemoglobin expression via the stress-signaling pathway in human sickle erythroid progenitors and sickle cell disease mice

Alpha globin gene deletions in amelioration of clinical severity in beta haemoglobinopathy subjects with the β0/β+ genotype

The paper investigates how alpha globin gene deletions affect clinical severity in beta-thalassemia patients with specific genotypes, finding significant amelioration in the β+/β0 genotype.

Elevated p21 (CDKN1a) mediates β-thalassemia erythroid apoptosis but its loss does not improve β-thalassemic erythropoiesis

This paper investigates the role of p21 in β-thalassemia erythroid apoptosis and shows that while reducing p21 or Foxo3 decreases apoptosis, it does not improve ineffective erythropoiesis.

Identification of novel HPFH-like mutations by CRISPR base editing that elevates the expression of fetal hemoglobin

This study uses CRISPR base editing to identify novel mutations in the HBG promoter that increase fetal hemoglobin expression without harmful effects.

3'HS1 CTCF binding site in human β-globin locus regulates fetal hemoglobin expression

The paper shows that deleting the 3HS1 CTCF binding site increases fetal hemoglobin expression in hematopoietic stem cells and erythroid progenitor cells, suggesting therapeutic potential for hemoglobinopathies.

Clinical validity of single-gene non-invasive prenatal testing for sickle cell disease and beta thalassemia

This study validates a single-gene non-invasive prenatal test (NIPT) for sickle cell disease and beta thalassemia, showing 100% concordance with newborn screening in 79 pregnancies.

Drug repurposing: Hydroxyurea therapy improves the transfusion-free interval in HbE/beta thalassemia major patients with Xmn1 polymorphism

Hoslundia opposita and other Nigerian plants inhibit sickle hemoglobin polymerization and prevent erythrocyte sickling: a virtual screening-guided identification of bioactive plants.

This study identifies Hoslundia opposita and other Nigerian plants that inhibit sickle hemoglobin polymerization and prevent erythrocyte sickling through virtual screening and experimental validation.

Burdwan University Thalassemia Severity (BUTS) Scoring System: A numerical Method For Defining the Clinicopathological status of Thalassaemia Patient

The paper introduces a severity scoring system for beta-haemoglobinopathies using clinical parameters to classify patients as severe or non-severe, achieving 94% accuracy in a cohort of Eastern Indian patients.

Gene replacement of α-globin with β-globin restores hemoglobin balance in β-thalassemia-derived hematopoietic stem and progenitor cells

This study replaces the HBA1 gene with HBB in β-thalassemia-derived HSPCs using CRISPR, normalizing globin ratios and restoring functional hemoglobin.

Analysis of Hippocampal Subfields in Sickle Cell Disease Using Ultrahigh Field MRI

This study uses 7T MRI to find reduced volumes of specific hippocampal subfields in sickle cell disease patients compared to controls.

ZNF410 uniquely activates the NuRD component CHD4 to silence fetal hemoglobin expression

The paper identifies ZNF410 as a highly specific transcriptional activator in erythroid cells that regulates CHD4 and fetal hemoglobin expression.

Causal role of L-glutamine in sickle cell disease painful crises: a Mendelian randomization analysis

The paper uses Mendelian randomization to confirm a causal link between L-glutamine levels and reduced painful crises in sickle cell disease, while finding no significant causal relationships for other metabolites.

ZNF410 represses fetal globin by devoted control of CHD4/NuRD

This study identifies ZNF410 as a novel repressor of fetal globin by targeting the NuRD complex, offering a new therapeutic target for beta-hemoglobinopathies.

Development of a Genomic DNA Reference Material Panel for Thalassemia Genetic Testing

The paper develops a national panel of 31 genomic DNA reference materials for thalassemia genetic testing, validated across multiple laboratories and stable under various conditions.

Age and neuroinflammation are important components of the mechanism of cognitive and neurobehavioral deficits in sickle cell disease.

This study shows that aging, neuroinflammation, and reduced neuroplasticity contribute to cognitive and neurobehavioral deficits in sickle cell disease, with potential therapeutic benefits from minocycline treatment.

ATF4 mediates fetal globin upregulation in response to reduced β-globin

The paper identifies ATF4 as a key regulator of fetal globin re-expression in response to reduced β-globin, providing mechanistic insight into stress-induced globin compensation.

Use of an automated pyrosequencing technique for confirmation of Sickle Cell Disease

The paper develops an automated pyrosequencing technique to confirm sickle cell disease and detect HBB gene mutations, showing high accuracy in identifying hemoglobin variants.

Molecular Screening of Hemoglobin S Variant in Anemia Patients of Eastern UP Population

The paper screens for the HbS mutation in anemia patients from Eastern UP, finding 1.14% homozygous HbS cases.

Modelling erythropoiesis in congenital dyserythropoietic anaemia type I (CDA-I)

This study models erythropoiesis in CDA-I by analyzing patient-derived erythroblasts, identifying abnormalities in DNA accessibility, proliferation, and enucleation, with genotype-phenotype correlations.

CRISPR-Cas9 interrogation of a putative fetal globin repressor in human erythroid cells.

This study uses CRISPR-Cas9 to test a putative fetal globin repressor region, finding it does not autonomously silence gamma-globin, suggesting it is not a therapeutic target for beta-hemoglobinopathies.

BAP1 deubiquitinase is a potent repressor of fetal hemoglobin biosynthesis

The paper identifies BAP1 as a key repressor of fetal hemoglobin biosynthesis by maintaining NCoR1 at the β-globin locus and shows its inhibition increases γ-globin synthesis.