Sickle cell anemia (SCA) is a severe genetic disorder characterized by the production of abnormal hemoglobin S, leading to the formation of sickle-shaped red blood cells that cause chronic anemia, pain, and organ damage. This review explores recent innovative strategies aimed at improving survival rates and quality of life for SCA patients. Genetic therapies, particularly gene editing with CRISPR-Cas9 and gene therapy using lentiviral vectors, have shown significant potential in correcting the genetic defects responsible for SCA. Clinical trials demonstrate that these approaches can reduce sickle cell crises and minimize the need for blood transfusions by enabling the production of healthy red blood cells. Novel pharmacological treatments such as voxelotor, crizanlizumab, and L-glutamine provide additional mechanisms to prevent hemoglobin polymerization, reduce vaso-occlusive episodes, and decrease oxidative stress, respectively. These therapies offer new hope for patients, particularly those who do not respond adequately to existing treatments. Improved blood transfusion protocols, including automated red cell exchange and advanced donor-matching techniques, have enhanced the safety and efficacy of transfusions, reducing complications like alloimmunization. Comprehensive care models, integrating multidisciplinary care teams, patient education, and telemedicine, have further contributed to better disease management. By providing holistic care that addresses both medical and psychosocial needs, these models improve patient adherence to treatment and overall health outcomes. This review highlights the importance of these innovative strategies and calls for continued research and development to sustain and expand these advancements in SCA care.
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http://dx.doi.org/10.1097/MS9.0000000000002534 | DOI Listing |
Invest Ophthalmol Vis Sci
January 2025
Department of Ophthalmology, New York Eye and Ear Infirmary of Mount Sinai, New York, New York, United States.
Purpose: To assess the preferential sites of retinal capillary occlusion at the parafovea in patients with sickle cell disease (SCD) using optical coherence tomography angiography (OCT-A).
Methods: OCT-A scans from 107 patients with SCD and 51 race-matched unaffected controls were obtained using a commercial spectral domain-OCT system. At least eight sequential 3 × 3 mm scans centered at the fovea were acquired and averaged for image analysis.
Arch Orthop Trauma Surg
January 2025
UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75390, USA.
Introduction: Manipulation under anesthesia (MUA) is a standard and effective treatment to correct stiffness and improve range of motion (ROM) following total knee arthroplasty (TKA). Delayed MUA has been associated with increased rates of revision surgeries and infections. Early MUA has been shown to double the mean gain in flexion compared to delayed interventions.
View Article and Find Full Text PDFPain Manag Nurs
January 2025
Faculty of Nursing, Al Al-Bayt University, Mafraq, Jordan.
Purpose: This study aimed to investigate pain characteristics, opioid misuse prevalence, and the relationship between healthliteracy and pain catastrophising in patients with Sickle Cell Disease (SCD).
Design: This was a cross-sectional study.
Methods: Data were collected from patients with SCD in Oman.
Hematol Rep
January 2025
Laboratory of Immunobiology and Immunogenetics, Post Graduation Program in Genetics and Molecular Biology (PPGBM), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre 91501-970, Brazil.
A quarter of a century ago, sickle cell disease (SCD) was mainly viewed as a typical genetic disease inherited as a classical Mendelian trait. Therefore, the main focus concerning SCD was on diagnosis, meaning, genotyping, and identification of homozygous and heterozygous individuals carrying the relevant HbS mutant allele. Nowadays, it is well established that sickle cell disease is indeed the result of homozygosis for the HbS variant, although this single feature is not capable of explaining the highly diverse clinical presentation of SCD.
View Article and Find Full Text PDFTransfusion
January 2025
Ottawa Hospital Research Institute, Ottawa Hospital Center for Transfusion, Ottawa, Ontario, Canada.
Background: Red blood cell (RBC) utilization in patients with sickle cell disease (SCD) in Canada is poorly defined. This study describes RBC utilization in an SCD cohort at a single Canadian center.
Study Design And Methods: All adults with SCD who received care at the Ottawa Hospital between January 2006 and May 2019 were included, and followed until December 2021.
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