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Haemoglobin (Hb) AE Bart's Disease in a Young Patient: A Case Report.
Cureus
December 2024
Department of Haematology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.
Haemoglobin (Hb) AE Bart's disease is a rare form of thalassemia that results from the co-inheritance of Hb E and alpha thalassemia, typically with Hb H disease. The clinical severity can vary depending on the underlying genetic mutations, particularly in the presence of Hb Constant Spring (Hb CS), which is a highly unstable form of alpha thalassemia. Understanding the genetic basis and haematological profiles of Hb AE Bart's disease is crucial for proper diagnosis and management.
View Article and Find Full Text PDFMolecular Characterization of δβ Thalassemia/Hereditary Persistence of Fetal Hemoglobin and Its Correlation With Clinical and Hematological Profile; a Single Center Study in North India.
Int J Lab Hematol
December 2024
Department of Hematology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
Background: δβ-thalassemia/HPFH is an uncommon hemoglobinopathy characterized by decreased or the total absence of production of δ- and β-globin and increased HbF levels. Both these disorders have variable genotype and phenotype, but significant overlap in the clinical and laboratory findings. Given the lack of literature in this regard, the study aimed to estimate the prevalence of the disease and evaluate its clinical, hematological, and molecular profile in India.
View Article and Find Full Text PDFCo-inheritance of Rare Variants of Maturity-Onset Diabetes of the Young (MODY): A Case Report and Review of the Literature.
Cureus
September 2024
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, Jeddah, SAU.
Article Synopsis
- * A 55-year-old man, initially misdiagnosed with type 2 diabetes for over 18 years, showed persistent high blood sugar levels until treatment with gliclazide significantly improved his condition.
- * Genetic testing revealed rare variants in the BLK and ABCC8 genes, indicating a co-occurrence of MODY11 and MODY12, underscoring the need for accurate testing to improve treatment strategies and better understand the role of these genes in MODY.
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.
Hematological Profile of Hb Adana Among High School Students in Northeast Peninsular Malaysia.
Cureus
March 2024
Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.
Background Hb Adana is a non-deletional alpha (α)-thalassaemia variant resulting from mutations in α1- or α2-globin codon 59 (α), leading to the production of unstable α-globin. Clinical manifestations can vary from silent carrier status to dependence on blood transfusions, hepatosplenomegaly, skeletal deformities, and spinal cord compression. Despite the significance of Hb Adana inheritance, studying this variant poses challenges due to the scarcity of molecular tests and the potential for routine diagnoses to be overlooked.
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