Αποτελέσματα Αναζήτησης
A single β-globin gene (HBB glu6val) point mutation resulting in sickle hemoglobin (HbS) is the proximate cause of sickle cell disease (Chapter 19). The primary cause of the disease is HbS polymerization that injures and deforms the sickle erythrocyte, causing many pathological consequences discussed elsewhere in this book.
Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder.
1 Ιαν 2008 · The root cause of sickle cell disease is a single beta-globin gene mutation coding for the sickle beta-hemoglobin chain. Sickle hemoglobin tetramers polymerize when deoxygenated, damaging the...
4 Σεπ 2023 · Sickle cell anemia is characterized by two major components: Hemolysis and vaso-occlusive crises (VOC). The defect in the beta-globin gene makes the sickle hemoglobin (HbS) molecule susceptible to converting into rigid, elongated polymers in a deoxygenated state.
24 Ιαν 2019 · Based on current evidence, the pathobiology of SCD is considered to be a vicious cycle of four major processes, all the subject of active study and novel therapeutic targeting: (a) hemoglobin S...
Sickle-cell anaemia (also known as sickle-cell disorder or sickle-cell disease) is a common genetic condition due to a haemoglobin disorder – inheritance of mutant haemoglobin genes from both parents. Such haemoglobinopathies, mainly thalassaemias and sickle-cell anaemia, are globally widespread.
19 Μαρ 2020 · Sickle cell hemoglobin (HbS) is an example of a genetic variant of human hemoglobin where a point mutation in the β globin gene results in substitution of glutamic acid to valine at sixth position of the β globin chain.
