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Association of gene polymorphism (rs724016) with height and fetal hemoglobin in individuals with sickle cell anemia.
Mol Genet Metab Rep
June 2024
Department of Basic Life Sciences, UFJF-GV, MG, Brazil.
Objectives: Our study evaluated the association of the polymorphism rs724016 in the gene, previously associated with height in other populations, with predictors of height, clinical outcomes, and laboratory parameters in sickle cell anemia (SCA).
Methods: Cross-sectional study with individuals with SCA and aged between 3 and 20 years. Clinical, laboratory, molecular, and bone age (BA) data were evaluated.
Glucose-6-phosphate dehydrogenase deficiency with coinherited Gaucher disease: A rare association.
Indian J Pathol Microbiol
April 2024
Department of Paediatrics, Lady Hardinge Medical College and Associated SSK & KSC Hospitals, New Delhi, India.
Anemia coexisting with Gaucher disease (GD) is often associated with non-hemolytic processes. Few cases of GD with autoimmune hemolytic anemia have been reported. However, literature on GD with concomitant nonimmune hemolytic anemia is scarce.
View Article and Find Full Text PDFFunctional characterization of compound heterozygosity Hb S/Hb Deer Lodge in Brazil.
Hematol Transfus Cell Ther
November 2024
Universidade Federal de Pernambuco, Programa de Pós-Graduação em Genética, Recife, PE, Brasil. Electronic address:
Introduction: The Hb Deer Lodge (β2 His>Arg; HBB:c.8A>G) is a structural hemoglobin variant described in some populations around the world, characterized by increased oxygen affinity, but does not confer clinical symptoms to its carriers. The coinheritance of the Hb Deer Lodge with the most common hemoglobin variant, Hb S, has been reported only once; however, functional data were not described.
View Article and Find Full Text PDFHaemoglobin (Hb) G-Makassar is a rare Hb variant. It presents a diagnostic challenge as it imitates sickle Hb (Hb S) in standard electrophoresis and high-performance liquid chromatography assays requiring DNA analysis to confirm diagnosis. Both have point mutations in codon 6, exon 1 in the β-globin () gene with different pathogenicities.
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