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| http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2023.12.017 | DOI Listing |
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Circulating biomarkers associated with pediatric sickle cell disease.
Front Mol Biosci
December 2024
Department of Microbiology, Biochemistry and Immunology, Morehouse School of Medicine, Atlanta, GA, United States.
Introduction: Sickle cell disease (SCD) is a genetic blood disorder caused by a mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin. This mutation leads to the production of abnormal hemoglobin S (HbS), causing red blood cells to deform into a sickle shape. These deformed cells can block blood flow, leading to complications like chronic hemolysis, anemia, severe pain episodes, and organ damage.
View Article and Find Full Text PDFATRX silences Cartpt expression in osteoblastic cells during skeletal development.
J Clin Invest
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
ATP-dependent chromatin remodeling protein ATRX is an essential regulator involved in maintenance of DNA structure and chromatin state and regulation of gene expression during development. ATRX was originally identified as the monogenic cause of X-linked α-thalassemia mental retardation (ATR-X) syndrome. Affected individuals display a variety of developmental abnormalities and skeletal deformities.
View Article and Find Full Text PDFFirst Reported Case of Hemoglobin Graz in the United States: Implications for Misleading Hemoglobin A Results.
JCEM Case Rep
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Department of Endocrinology, St. Luke's University Health Network, Bethlehem, PA 18015, USA.
Routine serum studies in a female patient with sustained prediabetic glycated hemoglobin A (HbA) levels, controlled on metformin, yielded an unexpected finding: an elevated HbA value of ≥14.9% (≥139 mmol/mol) (normal reference range, <5.7% to <39 mmol/mol).
View Article and Find Full Text PDFFalse HbA value due to a rare variant of hemoglobin Petie Salpetriere coinherited with alpha thalassemia.
Adv Lab Med
December 2024
Department of Laboratory Service, Área de Gestión Sanitaria Norte de Huelva, Hospital de Riotinto, Minas de Riotinto, Huelva, Spain.
Objectives: To describe a variant hemoglobin that interferes with HbA analysis by cation exchange HPLC.
Case Presentation: A 78 years-old Spanish male patient visited the Internal Medicine Clinic for a routine check-up, with HbA included to screen for diabetes. He had suffered hypertension and dyslipidemia, and the patient had no previous symptoms suggestive of diabetes such as hyperglycemia, weight loss, polydipsia, polyuria or tiredness.
Feasibility of clinical newborn metabolic screening in a high-volume maternity center in Nepal.
BMC Glob Public Health
February 2024
Mother and Infant Research Activities (MIRA), Kathmandu, Nepal.
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