Br J Haematol
Department of Paediatrics, University of Würzburg, Würzburg, Germany.
Published: November 2019
Hereditary spherocytosis (HS) is characterised by increased osmotic fragility and enhanced membrane loss of red blood cells (RBC) due to defective membrane protein complexes. In our diagnostic laboratory, we observed that pyruvate kinase (PK) activity in HS was merely slightly elevated with respect to the amount of reticulocytosis. In order to evaluate whether impaired PK activity is a feature of HS, we retrospectively analysed laboratory data sets from 172 unrelated patients with HS, hereditary elliptocytosis (HE), glucose-6-phosphate dehydrogenase (G6PD) or PK deficiency, sickle cell or haemoglobin C disease, or β-thalassaemia minor. Results from linear regression analysis provided proof that PK activity decreases with rising reticulocyte counts in HS (R = 0·15; slope = 9·09) and, less significantly, in HE (R = 0·021; slope = 8·92) when compared with other haemolytic disorders (R ≥ 0·65; slopes ≥ 78·6). Reticulocyte-adjusted erythrocyte PK activity levels were significantly lower in HS and even declined with increasing reticulocytes (R = 0·48; slope = -9·74). In this report, we describe a novel association between HS and decreased PK activity that is apparently caused by loss of membrane-bound PK due to impaired structural integrity of the RBC membrane and may aggravate severity of haemolysis in HS.
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http://dx.doi.org/10.1111/bjh.16084 | DOI Listing |
Turk J Haematol
January 2025
Marmara University Faculty of Medicine, Department of Medical Genetics, İstanbul, Türkiye.
Objective: This study aims to determine the genotypic characteristics of Hereditary Spherocytosis (HS) patients in Turkiye and to examine the correlation between genotype and phenotype.
Materials And Methods: Herein we had 18 patients who were admitted to pediatric hematology outpatient clinic with hemolytic anemia, jaundice, cholelithiasis, and splenomegaly. According to the Eber's classification, the patients' clinical presentations were categorized as mild, moderate, and severe.
J Paediatr Child Health
December 2024
Department of Physiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
Aim: To evaluate endocrinological changes and insulin secretion in patients with hereditary spherocytosis (HS).
Methods: The study included 30 patients with HS and 30 healthy control groups who were of similar age and gender. Routine tests, including hemogram, biochemical and hormonal tests were conducted on both patients with HS and the control group.
Am J Hematol
February 2025
Department of Hematology, Odense University Hospital, Odense, Denmark.
Chronic hemolysis potentially elevates the risk of gallstones in several types of congenital red blood cell (RBC) disorders. However, the magnitude of the risk is unknown. We investigate the risk of gallstone disease in congenital RBC disorder patients, compared with general population comparators.
View Article and Find Full Text PDFFront Pediatr
November 2024
Department of Pediatric Surgery, Anhui Provincial Children's Hospital, Hefei, China.
Background: Gallstones are among the most common complications of hereditary spherocytosis (HS). In previous treatments, gallbladder-preserving cholelithotomy (GPC) has remained a subject of significant debate due primarily to potential risks of stone recurrence. However, past studies have often overlooked the impact of specific disease conditions on GPC.
View Article and Find Full Text PDFBr J Haematol
December 2024
Department of Biological Haematology, Montpellier University Hospital, Montpellier, France.
Non-transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next-generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association between IOL and the genes involved in HS nor the HFE:p.
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