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| http://dx.doi.org/10.1038/s41433-022-02199-9 | DOI Listing |
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Unveiling the Burden of Sickle Cell Anemia: A Pilot Study Validating Dried Blood Spots for Newborn Screening.
Indian J Pediatr
January 2025
Department of Biochemistry, All India Institute of Medical Sciences, Bibinagar, Hyderabad, Telangana, India.
This hospital-based cross-sectional study aimed to screen newborns for sickle cell anemia immediately after birth and validate dried blood spot (DBS) samples against conventional venous blood samples (CBS) for hemoglobin variant analysis by HPLC. Among 751 newborns, 2.93% were found to have sickle cell trait.
View Article and Find Full Text PDFThe Mortality of Adults With Sickle Cell Disease at a Comprehensive Sickle Cell Center.
Eur J Haematol
January 2025
Georgia Comprehensive Sickle Cell Center at Grady Health System, Emory University School of Medicine, Atlanta, Georgia, USA.
Introduction: Sickle cell disease (SCD) is the most common hemoglobinopathy in North America. The life expectancy of SCD has extended into adulthood with screenings, preventative care, and hydroxyurea. However, comorbidities arise as adults with SCD age, leading to early mortality.
View Article and Find Full Text PDFSystemic lupus erythematosus-associated autoantibodies in sickle cell disease: Spontaneous emergence in a patient and in transgenic sickle mice.
Br J Haematol
January 2025
Division of Nephrology, Department of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.
We describe a patient with sickle cell disease (SCD) and elevated antiphospholipid antibodies (aPL) who developed multi-organ failure resembling catastrophic antiphospholipid syndrome. Autoimmune screening revealed several autoantibodies characteristic of systemic lupus erythematosus (SLE). Notably, routinely housed and unmanipulated transgenic sickle mice displayed significantly elevated titres of aPL- and SLE-associated autoantibodies.
View Article and Find Full Text PDFPrenatal Exome Sequencing Identifies Dual Maternal-Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia.
Prenat Diagn
January 2025
Department of Obstetrics, Gynecology, & Reproductive Sciences, University of California, San Francisco, California, USA.
Article Synopsis
- Prenatal exome sequencing (ES) successfully identified both fetal and maternal genetic diagnoses, revealing a shared pathogenic gamma globin variant in a fetus with unexplained anemia and a mother with sickle cell disease (SCD).
- The identified variant, HbF Mission Bay HBG2, is linked to various blood-related conditions, including cyanosis and hemolytic anemia, which generally emerge in infancy but can persist into adulthood.
- In this case, the mother's own symptoms from the variant, such as recurrent hypoxia and methemoglobinemia during pregnancy, occurred alongside the fetus's need for multiple blood transfusions and post-birth methemoglobinemia.
Web-Based Educational Resources for Patients with Sickle Cell Disease: Availability and Reliability.
Int J Gen Med
December 2024
Department of Medicine, College of Medicine, King Faisal University, Alahsa, Saudi Arabia.
Purpose: Arabic is the primary language used in the Middle East, where sickle cell disease (SCD) is prevalent. This study aims to quantify Arabic web educational materials for patients with SCD and provide a descriptive standardized assessment.
Methods And Materials: This retrospective, descriptive study aimed to analyze Arabic websites on SCD through the Discern instrument and JAMA benchmark.
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