ArticleHaematologica2009
A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.
Article in Haematologica, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 67 citations in OpenAlex.
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- Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a NovelCancers · 2021Article
- Structural and functional insights into the mechanism of action of plant borate transporters.Scientific reports · 2021Article
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- Oxidation Impacts the Intracellular Signaling Machinery in Hematological Disorders.Antioxidants (Basel, Switzerland) · 2020Review
- Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation.Frontiers in physiology · 2020Article
- Dehydrated hereditary stomatocytosis: clinical perspectives.Journal of blood medicine · 2019Article
- The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.Frontiers in physiology · 2018Review
- Disorders of erythrocyte hydration.Blood · 2017Review
- Asymmetry of inverted-topology repeats in the AE1 anion exchanger suggests an elevator-like mechanism.The Journal of general physiology · 2017Article
- Stomatin modulates the activity of the Anion Exchanger 1 (AE1, SLC4A1).Scientific reports · 2017Article
- Hereditary Xerocytosis due to Mutations inCase reports in hematology · 2017Article
- A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.Blood · 2016Article
- New insights on hereditary erythrocyte membrane defects.Haematologica · 2016Review
- Red Blood Cell Homeostasis: Pharmacological Interventions to Explore Biochemical, Morphological and Mechanical Properties.Frontiers in molecular biosciences · 2016Article
- Article
- Disorders of erythrocyte volume homeostasis.International journal of laboratory hematology · 2015Review
- Dysplastic changes in erythroid precursors as a manifestation of lead poisoning: report of a case and review of literature.International journal of clinical and experimental pathology · 2015Review
- Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Molecular and cellular biology · 2014Article
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11 authors at 6 institutions in 2 countries.
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Abstract
backgroundStomatocytoses are a group of inherited autosomal dominant hemolytic anemias and include overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis, hereditary cryohydrocytosis and familial pseudohyperkalemia. DESIGN AND
methodsWe report a novel variant of hereditary stomatocytosis due to a de novo band 3 mutation (p. G796R-band3 CEINGE) associated with a dyserythropoietic phenotype. Band 3 genomic analysis, measurement at of hematologic parameters and red cell indices and morphological analysis of bone marrow were carried out. We then evaluated the red cell membrane permeability and ion transport systems by functional studies of the patient's erythrocytes and Xenopus oocytes transfected with mutated band 3. We analyzed the red cell membrane tyrosine phosphorylation profile and the membrane association of the tyrosine kinases Syk and Lyn from the Src-family-kinase group, since the activity of the membrane cation transport pathways is related to cyclic phosphorylation-dephosphorylation events.
resultsThe patient showed mild hemolytic anemia with circulating stomatocytes together with signs of dyserythropoiesis. Her red cells displayed increased Na(+) content with decreased K(+)content and abnormal membrane cation transport activities. Functional characterization of band 3 CEINGE in Xenopus oocytes showed that the mutated band 3 is converted from being an anion exchanger (Cl(-), HCO(3)(-)) to being a cation pathway for Na(+) and K(+). Increased tyrosine phosphorylation of some red cell membrane proteins was observed in diseased erythrocytes. Syk and Lyn membrane association was increased in the patient's red cells compared to in normal controls, indicating perturbation of phospho-signaling pathways involved in cell volume regulation events.
conclusionsBand 3 CEINGE alters function from that of anion exchange to cation transport, affects the membrane tyrosine phosphorylation profile, in particular of band 3 and stomatin, and its presence during red cell development likely contributes to dyserythropiesis.
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