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The endocannabinoid system's genetic polymorphisms in sickle cell anemia patients.
Sci Rep
December 2024
Molecular Biology and Genetics Laboratory (LGBM), UFMS - Federal University of Mato Grosso do Sul, Três Lagoas, Brazil.
Sickle cell anemia (SCA) is a monogenic blood disease with complex and multifactorial pathophysiology. The endocannabinoid system (ECS) could be a candidate for modulating SCA complications, such as priapism, as it has demonstrated an essential role in hematopoiesis, platelet aggregation, and immune responses. We evaluated the association of ECS-related single nucleotide polymorphisms (SNP) (FAAH rs324420, MAGL rs604300, CNR1 rs7766029, and CNR2 rs35761398) with priapism in a Brazilian SCA cohort.
View Article and Find Full Text PDFImproving Sickle Cell Patient Appointment Compliance in a Hospital-based Pediatric Ophthalmology Clinic.
J Pediatr Hematol Oncol
January 2025
Department of Ophthalmology, Hamilton Eye Institute, University of Tennessee Health Science Center.
This quality improvement initiative aimed to reduce the no-show rate at a hospital-based tertiary sickle cell ophthalmology clinic. Missed appointments place a significant burden on the healthcare system, resulting in prolonged waiting times and underutilized clinical resources that impact the quality of care provided. Individuals with sickle cell disease commonly require multiple appointments to address the myriads of comorbidities associated with their disease.
View Article and Find Full Text PDFManagement of Spontaneous Epidural Hematoma in the Setting of Vaso-occlusive Crisis Among Pediatric Patients With Sickle Cell Disease: A Case Series and Scoping Literature Review.
J Pediatr Hematol Oncol
January 2025
Departments of Neurosurgery, Montefiore Medical Center, Albert Einstein College of Medicine.
Spontaneous epidural hematoma (EDH) is a rare sickle cell disease (SCD) complication. We report 3 pediatric cases with SCD and spontaneous EDH and 1 with subgaleal hematomas in the setting of vaso-occlusive crises and elaborate on their presentation and management. Through a scoping review, we identified 71 additional cases reported from 1970 to 2024 and highlighted notable features.
View Article and Find Full Text PDFSuccessful Management of Severe and Refractory Autoimmune Hemolytic Anemia (AIHA) in a Sickle Cell Disease Patient With Bortezomib.
Cureus
November 2024
Hematology and Medical Oncology, Al-Zahraa Medical College, Basrah, IRQ.
Autoimmune hemolytic anemia (AIHA) is a multifactorial disease that causes immune-mediated red blood cell destruction, resulting in anemia and hemolysis symptoms. Despite a significant understanding of its pathogenesis, the precise causes of AIHA remain largely unclear and are thought to be multifactorial. In this paper, we presented a case of sickle cell anemia who developed severe AIHA that failed to maintain response to multiple treatment lines, including steroids, intravenous immunoglobulin, rituximab, and immune suppressive medications.
View Article and Find Full Text PDFEnhanced fetal hemoglobin production via dual-beneficial mutation editing of the HBG promoter in hematopoietic stem and progenitor cells for β-hemoglobinopathies.
Stem Cell Res Ther
December 2024
Centre for Stem Cell Research (CSCR), A Unit of InStem Bengaluru, Christian Medical College Campus, Vellore, Tamil Nadu, 632002, India.
Background: Sickle cell disease (SCD) and β-thalassemia patients with elevated gamma globin (HBG1/G2) levels exhibit mild or no symptoms. To recapitulate this natural phenomenon, the most coveted gene therapy approach is to edit the regulatory sequences of HBG1/G2 to reactivate them. By editing more than one regulatory sequence in the HBG promoter, the production of fetal hemoglobin (HbF) can be significantly increased.
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