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PKLR mutations in pyruvate kinase deficient Polish patients: Functional characteristics of c.101-1G & gt; A and c.1058delAAG variants
Blood Cells Mol Dis. 2024 Mar 26;107:102841. doi: 10.1016/j.bcmd.2024.102841. Online ahead of print.ABSTRACTPyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of subo...
Source: Blood Cells, Molecules and Diseases - April 6, 2024 Category: Hematology Authors: Karolina Maciak Aneta Jurkiewicz Wojciech Strojny Anna Adamowicz-Salach Magdalena Romiszewska Teresa Jackowska Kinga Kwiecinska Jaroslaw Poznanski Monika Gora Beata Burzynska Source Type: research

Endurance training and hydroxyurea have synergistic effects on muscle function and energetics in sickle cell disease mice
Blood Cells Mol Dis. 2024 Mar 29;107:102853. doi: 10.1016/j.bcmd.2024.102853. Online ahead of print.ABSTRACTSickle cell disease (SCD) is an hemoglobinopathy resulting in the production of an abnormal Hb (HbS) which can polymerize in deoxygenated conditions, leading to the sickling of red blood cells (RBC). These alterations can decrease the oxygen-carrying capacity leading to impaired function and energetics of skeletal muscle. Any strategy which could reverse the corresponding defects could be of interest. In SCD, endurance training is known to improve multiples muscle properties which restores patient's exercise capacity...
Source: Blood Cells, Molecules and Diseases - April 4, 2024 Category: Hematology Authors: Constance P Michel Laurent A Messonnier Benoit Giannesini Christophe Vilmen Joevin Sourdon Yann Le Fur David Bendahan Source Type: research

Platelet activation and blood extracellular vesicles: The influence of venepuncture and short blood storage
CONCLUSIONS: Preanalytical factors like needle thickness and storage time can affect the MVs' properties. Activation of platelets during blood collection or blood storage occurs; however, it is difficult to determine its effect on the physiological properties of EVs since the mechanisms of EVs` biogenesis and especially clearness are not precisely known.PMID:38492545 | DOI:10.1016/j.bcmd.2024.102842 (Source: Blood Cells, Molecules and Diseases)
Source: Blood Cells, Molecules and Diseases - March 16, 2024 Category: Hematology Authors: Ivica Mari ć Klemen Žiberna Ana Kolenc Elvira Mali čev Source Type: research