We describe a case of a patient suffering from benign osteopetrosis and sickle-cell beta+ thalassaemia. This case allows us to study the combined action of various pathogenetic mechanism involved in both diseases. The coexistence of osteopetrosis with sickle-cell beta+ thalassaemia seems to intensify the anaemia and sickling, but does not appear to modify the course of the osteopetrosis.
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Hemoglobin
January 2025
Department of Pathology, School of Medicine, University of Duhok, Duhok, Iraq.
The knowledge of the prevalence and molecular basis of β-hemoglobinopathies constitutes an important prerequisite for an effective prevention program. To address this issue in Iraq's capital, Baghdad, a total of 12526 individuals (6263 couples) attending three main Premarital Screening centers were enrolled. Individuals were labeled as β-hemoglobin disorders based on full blood counts and high-performance liquid chromatography.
View Article and Find Full Text PDFCommun Biol
January 2025
Georgia Cancer Center, Augusta University, Augusta, GA, 30912, USA.
The transsulfuration (TSS) pathway is an alternative source of cysteine for glutathione synthesis. Little of the TSS pathway in antioxidant capacity in sickle cell disease (SCD) is known. Here, we evaluate the effects of TSS pathway activation through cystathionine beta-synthase (CBS) to attenuate reactive oxygen species (ROS) and ferroptosis stresses in SCD.
View Article and Find Full Text PDFPharmacoecon Open
January 2025
Division of Pediatric Stem Cell Therapy, Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine-University, Duesseldorf, Germany.
Objective: The purpose of this study was to describe clinical complications and healthcare resource utilization (HCRU) among patients with sickle cell disease (SCD) with recurrent vaso-occlusive crises (VOCs) and patients with transfusion-dependent β-thalassemia (TDT) in Germany.
Methods: The Betriebskrankenkasse (BKKs) Database was used to identify patients with SCD or TDT. To be eligible for inclusion, patients with SCD were required to have ≥ 2 VOCs/year in any two consecutive years and ≥ 12 months of available data before and after the index date (second VOC in the second consecutive year).
Front Mol Biosci
December 2024
Department of Microbiology, Biochemistry and Immunology, Morehouse School of Medicine, Atlanta, GA, United States.
Introduction: Sickle cell disease (SCD) is a genetic blood disorder caused by a mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin. This mutation leads to the production of abnormal hemoglobin S (HbS), causing red blood cells to deform into a sickle shape. These deformed cells can block blood flow, leading to complications like chronic hemolysis, anemia, severe pain episodes, and organ damage.
View Article and Find Full Text PDFBr J Haematol
January 2025
Department of Molecular Hematology, Sanquin Research and Landsteiner Laboratory, Amsterdam, the Netherlands.
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