Fundus examination of a young African female affected with acute benign unilateral iridocyclitis showed lesions similar to those of sickle cell disease. She had a homozygous C/C hemoglobinosis, which was previously unknown. Certain hematological lesions confirmed the pathogenesis of these pathological entities in absence of sickle cell formation.
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Med Sci (Paris)
January 2025
Institut Imagine, Inserm UMR1163, université Paris Cité, Paris, France.
Beta-haemoglobinopathies are severe genetic anemias caused by mutations that affect adult haemoglobin production. Many therapeutic approaches aim to reactivate the expression of the fetal hemoglobin genes. To this end, the CRISPR/Cas9 system has recently been used to genetically modify patients' hematopoietic stem/progenitor cells ex vivo and reactivate fetal hemoglobin expression in their erythroid progeny.
View Article and Find Full Text PDFHum Mol Genet
January 2025
Montreal Heart Institute, 5000 Bélanger Street, Montréal, Québec, H1T 1C8, Canada.
Sickle cell disease (SCD) is the most common monogenic disease in the world and is caused by mutations in the β-globin gene (HBB). Notably, SCD is characterized by extreme clinical heterogeneity. Inter-individual variation in fetal hemoglobin (HbF) levels strongly contributes to this patient-to-patient variability, with high HbF levels associated with decreased morbidity and mortality.
View Article and Find Full Text PDFOphthalmol Sci
November 2024
Viterbi Family Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, La Jolla, California.
Objective: To quantitatively assess the retinal vascular tortuosity of patients with sickle cell disease (SCD) and retinopathy (SCR) using an automated deep learning (DL)-based pipeline.
Design: Cross-sectional study.
Subjects: Patients diagnosed with SCD and screened for SCR at an academic eye center between January 2015 and November 2022 were identified using electronic health records.
South Med J
February 2025
the Department of Public Health Sciences.
Objectives: Sickle cell disease (SCD), which disproportionately affects minorities, increases complications during pregnancy. Severe maternal mortality is increased in women with SCD, including morbidity related to the disease and other nondisease-related complications. It also can have devastating complications for fetuses, with increases in premature birth and low birth weight.
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