Ineffective erythropoiesis and its treatment

M Cazzola - Blood, The Journal of the American Society of …, 2022 - ashpublications.org
The erythroid marrow and circulating red blood cells (RBCs) are the key components of the
human erythron. Abnormalities of the erythron that are responsible for anemia can be …

[HTML][HTML] From bench to bedside: The promise of sotatercept in hematologic disorders

Z Lan, Z Lv, W Zuo, Y Xiao - Biomedicine & Pharmacotherapy, 2023 - Elsevier
Abstract Sotatercept (ACE-011) is an activin receptor IIA-Fc (ActRIIA-Fc) fusion protein
currently under investigation for its potential in the treatment of hematologic diseases. By …

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II

MM Musri, V Venturi, X Ferrer-Cortès… - International Journal of …, 2023 - mdpi.com
Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive
blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is …

The congenital dyserythropoieitic anemias: genetics and pathophysiology

R King, PJ Gallagher, R Khoriaty - Current opinion in hematology, 2022 - journals.lww.com
The congenital dyserythropoieitic anemias: genetics and path... : Current Opinion in
Hematology The congenital dyserythropoieitic anemias: genetics and pathophysiology : Current …

SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II

R King, Z Lin, G Balbin-Cuesta, G Myers… - Science …, 2021 - science.org
Congenital dyserythropoietic anemia type II (CDAII) results from loss-of-function mutations in
SEC23B. In contrast to humans, SEC23B-deficient mice deletion do not exhibit CDAII but die …

SEC23B loss-of-function suppresses hepcidin expression by impairing glycosylation pathway in human hepatic cells

BE Rosato, R Marra, V D'Onofrio, F Del Giudice… - International Journal of …, 2022 - mdpi.com
Biallelic pathogenic variants in the SEC23B gene cause congenital dyserythropoietic
anemia type II (CDA II), a rare hereditary disorder hallmarked by ineffective erythropoiesis …

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias

B Fattizzo, JA Giannotta, N Cecchi… - Orphanet Journal of Rare …, 2021 - Springer
Congenital hemolytic anemias (CHAs) comprise defects of the erythrocyte membrane
proteins and of red blood cell enzymes metabolism, along with alterations of erythropoiesis …

Sotatercept in pulmonary hypertension and beyond

R Madonna, S Ghelardoni - European Journal of Clinical …, 2025 - Wiley Online Library
Sotatercept binds free activins by mimicking the extracellular domain of the activin receptor
type IIA (ACTRIIA). Additional ligands are BMP/TGF‐beta, GDF8, GDF11 and BMP10. The …

Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias

R Russo, A Iolascon, I Andolfo, R Marra… - … Journal of Laboratory …, 2024 - Wiley Online Library
Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are
rare disorders disrupting normal erythroid lineage development, resulting in ineffective …

Congenital dyserythropoietic anemia type II and ineffective erythropoiesis: challenges in diagnosis and management

IJ Akpan, K Bogyo, RJ Leeman-Neill… - Frontiers in …, 2024 - frontiersin.org
Congenital dyserythropoietic anemia (CDA) is characterized by anemia—mild to severe,
hemolysis, ineffective erythropoiesis, and in some cases, iron overload. There are three …