Haemolytic crises caused by contact with Hoya carnosa were observed in a 45-years old woman. The investigation of erythrocyte enzymes displayed both G6PD deficiency and its diminished affinity to G-6-P. Some properties of dehydrogenases isolated from erythrocytes of the patient's brother and son were also changed although clinical signs of haemolysis were absent.
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Pak J Med Sci
January 2025
Khalid Khalil Security Forces Hospital Makkah, Makkah, Saudi Arabia.
Objective: To observe the fetomaternal outcome of therapeutic versus prophylactic blood transfusions in patients with sickle cell disease (SCD) during pregnancy.
Method: This single-center retrospective observational study was conducted on consecutive pregnant women with SCD between January 2018 and December 2020. All the pregnant women with SCD were included in this study.
Background Sickle cell disease (SCD) is a hereditary disorder marked by abnormal hemoglobin (HbS), leading to chronic hemolytic anemia, vaso-occlusive crises (VOCs), and multi-organ complications. In India, the prevalence of SCD is highest among tribal populations in states like Madhya Pradesh, Maharashtra, Odisha, and Assam, with the disease burden exacerbated by limited healthcare access, especially in rural regions. This study provides a comprehensive analysis of the demographic profile, clinical features, and treatment patterns of SCD patients at a tertiary healthcare center in Upper Assam, where the prevalence of SCD is high among the tea tribe communities.
View Article and Find Full Text PDFMed
December 2024
Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy; Hematology Department, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
Background: Unstable hemoglobins are caused by single amino acid substitutions in the HBB gene, often affecting key histidine residues, leading to protein destabilization and hemolytic crises. In contrast, long HBB variants, exceeding 20 bp, are rare and associated with a β-thalassemia phenotype due to disrupted α-β chain interactions. We describe a family wherein four of six members carry a novel 23-amino-acid in-frame duplication of HBB (c.
View Article and Find Full Text PDFLancet Haematol
January 2025
Virginia Commonwealth University, Richmond, VA, USA.
Background: Sickle cell disease, a debilitating, inherited haemolytic anaemia with premature morbidity and mortality, affects millions globally. Mitapivat, a first-in-class, oral, allosteric activator of pyruvate kinase, improves red blood cell survival by increasing ATP and diminishes sickling by decreasing 2,3-diphosphoglycerate. We aimed to evaluate the efficacy and safety of mitapivat in patients with sickle cell disease.
View Article and Find Full Text PDFJ Pain
November 2024
Department of Anesthesia, Stark Neurosciences Research Institute, Indiana University School of Medicine, Indianapolis, IN, USA; Division of Hematology/Oncology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA. Electronic address:
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