Background: Sickle cell disease is an autosomal recessive condition that results from the presence of a mutated form of hemoglobin. Some genetic variants of BCL11A are amenable to therapeutic manipulation. The present study investigated the relationship of a BCL11A variant (rs1427407) and its plasma levels with vaso-occlusive crises and stroke complications among patients in Sudan with sickle cell disease.
Methods: This cross-sectional study was performed between June 2014 and October 2016. The subjects included 166 patients who were diagnosed with sickle cell disease and 35 healthy control subjects, who were grouped according to sex and age (<15 years, 15-25 years, and >25 years). All patients and/or their guardians provided informed consent. Blood samples were collected from the patients and controls under aseptic conditions.
Results: Plasma BCL11A levels were elevated in cases with vaso-occlusive crises that lasted for >3 years. In addition, plasma BCL11A levels were high in cases with the GG genotype (vs. GT and TT) at rs1427407. Furthermore, the BCL11A rs1427407 GG/GT genotypes increased the risk of vaso-occlusive crisis and stroke in the patients with sickle cell disease.
Conclusion: The BCL11A variant (rs1427407) and its plasma levels were associated with vaso-occlusive crisis and stroke in patients with sickle cell disease.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351796 | PMC |
| http://dx.doi.org/10.4082/kjfm.17.0144 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Residual Cerebrovascular Morbidity Despite Treatment in Pediatric Sickle Cell Disease Highlights Opportunities for Earlier, Intensified Monitoring and Treatment.
Am J Hematol
January 2025
Department of Woman's and Child's Health, University of Padova, Padova, Italy.
Legendary Case of Factitious Disorder Presenting as 'Sickle Cell Disease' Creates Challenges for All Medical Specialties.
J Clin Apher
February 2025
Department of Laboratory Medicine and Pathology, Mayo Clinic Arizona, Phoenix, Arizona, USA.
Behavioral and Electrophysiological Assessment of Central Auditory Processing in Individuals with Sickle Cell Disease.
Pediatr Blood Cancer
January 2025
Department of Audiology and Speech Therapy, Universidade Federal de São Paulo, Sao Paulo, Brazil.
Introduction: Sickle cell anemia has a genetic origin characterized by an autosomal recessive inheritance pattern. The nervous system may be subject to vaso-occlusion and, consequently, affect the proper functioning of the central portion of hearing.
Objective: To assess central auditory skills and analyze short- and long-latency auditory evoked potentials in children with sickle cell disease.
Multiple sclerosis and sickle cell anemia: when two worlds collide.
Neurol Sci
January 2025
Hematology Unit, Careggi University Hospital, Florence, Italy.
Background: The coexistence of sickle cell anemia and multiple sclerosis in a single patient presents a rare and challenging clinical scenario, possibly favoured by the interplay between chronic inflammatory states and autoimmune processes.
Methos/results: We present the case of a 36-year-old woman with sickle cell anemia who developed progressive neurological symptoms leading to frequent falls and paraparesis; magnetic resonance imaging showed many periventricular, infratentorial, and both cervical and dorsal spinal cord lesions, leading to a diagnosis of multiple sclerosis. After a multidisciplinary approach the patient was successfully started on ofatumumab.
A Hospital Resource for Nurses Navigating Doctoral Education and Beyond.
J Nurs Adm
January 2025
Author Affiliations: Nursing Research Consultant (Dr Feetham), Nurse Scientist, and Associate Professor, George Washington University School of Medicine, Washington, DC (Dr Kelly), Nursing Research and Development Programs Manager (Dr Engh), Department Nursing Science, Professional Practice Quality, Director Healthcare Consulting CBRE Washington DC (Dr Frame): Chief Nursing Informatics and Education Officer (Dr King), Nurse Practitioner, Psychiatry Consult Liaison Service (Dr Ojini), Division of Emergency Medicine and Trauma Nursing Director (Dr Schultz), Sickle Cell Disease Lead Translation Research Advanced Practice Nurse and Director of the Sickle Cell Disease Transition Clinic, Associate Professor George Washington University (Dr Barbara Speller-Brown), and Simulation Program Manager (Dr Walsh), Children's National Hospital, Washington, DC; and Assistant Professor (Dr Giordano), Nell Hodgson Woodruff School of Nursing, Emory University, Atlanta, Georgia.
Advancing nursing practice to improve care and system outcomes requires doctoral-prepared nurses to conduct programs of research and translate science to practice. The authors describe a Doctoral support group (DSG) at one hospital designed to support nurses considering and navigating doctoral education while continuing as hospital employees. Strategies from 18 years' experience are provided for others to develop and sustain a DSG as part of an environment to support and retain nurses with doctoral degrees.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!