Please use this identifier to cite or link to this item: doi:10.22028/D291-40205
Title: Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias
Author(s): Petkova-Kirova, Polina
Hertz, Laura
Danielczok, Jens
Huisjes, Rick
Makhro, Asya
Bogdanova, Anna
Mañú-Pereira, Maria Del Mar
Vives Corrons, Joan-Lluis
van Wijk, Richard
Kaestner, Lars
Language: English
Title: Frontiers in Physiology
Volume: 10
Publisher/Platform: Frontiers
Year of Publication: 2019
Free key words: haemolytic anemia
hereditary spherocytosis
hereditary xerocytosis
DDC notations: 610 Medicine and health
Publikation type: Journal Article
Abstract: Congenital haemolytic anaemias are inherited disorders caused by red blood cell membrane and cytoskeletal protein defects, deviant hemoglobin synthesis and metabolic enzyme deficiencies. In many cases, although the causing mutation might be known, the pathophysiology and the connection between the particular mutation and the symptoms of the disease are not completely understood. Thus effective treatment is lagging behind. As in many cases abnormal red blood cell cation content and cation leaks go along with the disease, by direct electrophysiological measurements of the general conductance of red blood cells, we aimed to assess if changes in the membrane conductance could be a possible cause. We recorded whole-cell currents from 29 patients with different types of congenital haemolytic anaemias: 14 with hereditary spherocytosis due to mutations in α-spectrin, β-spectrin, ankyrin and band 3 protein; 6 patients with hereditary xerocytosis due to mutations in Piezo1; 6 patients with enzymatic disorders (3 patients with glucose-6-phosphate dehydrogenase deficiency, 1 patient with pyruvate kinase deficiency, 1 patient with glutamate-cysteine ligase deficiency and 1 patient with glutathione reductase deficiency), 1 patient with β-thalassemia and 2 patients, carriers of several mutations and a complex genotype. While the patients with β-thalassemia and metabolic enzyme deficiencies showed no changes in their membrane conductance, the patients with hereditary spherocytosis and hereditary xerocytosis showed largely variable results depending on the underlying mutation.
DOI of the first publication: 10.3389/fphys.2019.00386
URL of the first publication:
Link to this record: urn:nbn:de:bsz:291--ds-402053
ISSN: 1664-042X
Date of registration: 26-Jul-2023
Faculty: M - Medizinische Fakultät
Department: M - Anatomie und Zellbiologie
Professorship: M - Keiner Professur zugeordnet
Collections:SciDok - Der Wissenschaftsserver der Universität des Saarlandes

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