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Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.
Ann Hematol
October 2024
Department of Haematogenetics, ICMR-National Institute of Immunohematology, Indian Council of Medical Research, 13th Floor, NMS Building, King Edward Memorial (KEM.) Hospital Campus, Parel, Mumbai, 400012, India.
Article Synopsis
- * The study involves identifying CSA patients using a targeted next-generation sequencing (t-NGS) panel, discovering mutations related to microcytic anaemia, and assessing their response to treatments such as pyridoxine and blood transfusions.
- * Researchers found various genetic variants among patients, primarily in European populations, and used PyMoL software to study how these mutations affect protein structure and function, aiming for a deeper understanding of CSA genetics.
Collage of cases and brief review of the laboratory diagnosis and molecular testing in autoimmune haemolytic anaemia.
J Family Med Prim Care
February 2024
Department of Pathology, Saraswati Institute of Medical Sciences, Hapur, Uttar Pradesh, India.
Autoimmune haemolytic anaemia (AIHA) is an acquired heterogenous clinical entity with variable presentations like acute haemolysis or mild, chronic haemolysis compounded with acute exacerbation in winters or fatal uncompensated haemolysis. A step-wise approach to the diagnosis and characterisation of AIHA should be undertaken, firstly the diagnosis of haemolysis followed by the establishment of immune nature with the aid of direct agglutination tests (DAT). Simultaneously the other causes of immune haemolysis need to be excluded too.
View Article and Find Full Text PDFA Review of New Concepts in Iron Overload.
Gastroenterol Hepatol (N Y)
February 2024
Liver Institute Northwest, Seattle, Washington.
Iron overload disorders are conditions that can lead to increased body iron stores and end-organ damage in affected organs. Increased iron deposition most commonly occurs in the liver, heart, endocrine system, joints, and pancreas. Iron overload disorders may be caused by genetic or acquired causes (transfusion, dyserythropoiesis, and chronic liver disease).
View Article and Find Full Text PDFMitapivat for sickle cell disease and thalassemia.
Drugs Today (Barc)
March 2023
Hematology and Cellular Therapy Center, IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Mitapivat, an oral first-in-class activator of erythrocyte pyruvate kinase (PKR), was first investigated in patients with pyruvate kinase deficiency (PKD), where it was found to improve hemoglobin (Hb) concentrations in patients who did not regularly receive transfusions and to reduce transfusion burden in patients who receive regular transfusions. It was approved in 2022 for the treatment of PKD and is being explored in other hereditary chronic conditions that are associated with hemolytic mechanisms of anemia, such as sickle cell disease (SCD) and thalassemia. In a proof-of-concept phase I study in SCD, treatment with mitapivat demonstrated efficacy in increasing Hb concentrations, but also restored the thermostability of PKR, increasing its activity and decreasing 2,3-diphosphoglycerate (2,3-DPG) levels in sickle erythrocytes, which decreases Hb polymerization by increasing the affinity of Hb to oxygen.
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