Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency

Article Biochemistry & Molecular Biology

SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells

Barbara Eleni Rosato et al.

Summary: Loss-of-function of the SEC23B gene is directly associated with iron overload in patients with CDA II, and it also affects the production of hepcidin.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

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Article Health Care Sciences & Services

Tutorial on directed acyclic graphs

Jean C. Digitale et al.

Summary: Directed acyclic graphs (DAGs) are a powerful tool in clinical and epidemiologic research for analyzing causal relationships. By constructing DAGs, researchers can understand the mechanisms through which treatments and exposures impact outcomes, guiding study design and statistical analysis. DAGs can help control confounding and selection bias, while identifying sources of bias that may be introduced in the analysis.

JOURNAL OF CLINICAL EPIDEMIOLOGY (2022)

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Article Hematology

The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper

Noemi B. A. Roy et al.

HEMASPHERE (2022)

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Article Hematology

Comorbidities and complications in adults with pyruvate kinase deficiency

Audra N. Boscoe et al.

Summary: The study found that even never transfused patients with pyruvate kinase deficiency had higher rates of specific comorbidities and complications compared to individuals without pyruvate kinase deficiency.

EUROPEAN JOURNAL OF HAEMATOLOGY (2021)

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Article Hematology

Comprehensive phenotyping of erythropoiesis in human bone marrow: Evaluation of normal and ineffective erythropoiesis

Hongxia Yan et al.

Summary: A novel flow cytometry-based technique has been developed to identify and characterize erythroid progenitor cells at different stages, enabling in-depth studies of normal and disordered human erythropoiesis. This technique, validated in uncultured primary erythroid cells, holds important implications for discovering stage-specific molecular and functional insights into erythropoiesis, and for identifying defects in erythropoiesis in inherited and acquired disorders.

AMERICAN JOURNAL OF HEMATOLOGY (2021)

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Article Physiology

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

Elisa Fermo et al.

Summary: This study utilized a 43 genes targeted Next Generation Sequencing (t-NGS) panel to diagnose Congenital Hemolytic Anemias (CHAs), identifying new pathogenic variants and increasing diagnoses in cases with unexplained anemia. The implementation of laboratory work-up with t-NGS proved beneficial for rare and ultra-rare diseases.

FRONTIERS IN PHYSIOLOGY (2021)

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Article Genetics & Heredity

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients

Immacolata Andolfo et al.

Summary: This study analyzed 155 consecutive patients with clinical suspicion of hereditary erythrocyte defects, obtaining an overall diagnostic yield of 84% with monogenic inheritance seen in 69% and multi-locus inheritance in 15% of the tested patients. Some patients showed dual molecular diagnosis of different red blood cell disorders, indicating the importance of genetic testing for patients with complex modes of inheritance.

GENES (2021)

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Letter Hematology

A Comprehensive Analysis of the Erythropoietin-erythroferrone-hepcidin Pathway in Hereditary Hemolytic Anemias

Annelies J. van Vuren et al.

HEMASPHERE (2021)

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Article Medicine, Research & Experimental

The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model

Alessandro Matte et al.

Summary: Enhancement of pyruvate kinase activity by mitapivat showed positive effects on reducing chronic hemolysis and ineffective erythropoiesis in beta-thalassemia, leading to improved red cell metabolism, decreased oxidative stress, and mitigation of liver iron overload. The treatment also resulted in enhanced erythropoiesis and erythroid maturation in ex vivo studies on patients with beta-thalassemia, suggesting potential benefits beyond the erythropoietic compartment. Overall, these findings provide a strong scientific rationale for further clinical trials of pyruvate kinase activation as a therapeutic approach for beta-thalassemia.

JOURNAL OF CLINICAL INVESTIGATION (2021)

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Article Hematology