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7 Μαΐ 2019 · 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...
- ResearchGate
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- (PDF) Pathophysiology of Sickle Cell Disease - ResearchGate
Based on current evidence, the pathobiology of SCD is...
- (PDF) Sickle Cell Disease, a Review - ResearchGate
Sickle cell disease and its variants constitute the most...
- ResearchGate
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 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.
Abstract. Since the discovery of sickle cell disease (SCD) in 1910, enormous strides have been made in the elucidation of the pathogenesis of its protean com-plications, which has inspired recent advances in targeted molecular thera-pies.
Sickle cell disease is a multisystem disorder that is caused by a single gene mutation. Nearly every organ in the body can be affected (Fig. 2).
30 Μαΐ 2022 · Sickle cell disease and its variants constitute the most common inherited blood disorders affecting millions of individuals worldwide. Significant information regarding the nature of the...
Fig. 1 Sickle cell disease pathophysiology. A point mutation produces an abnormal hemoglobin that polymerizes under hypoxia; the downstream effects impact other blood cells, cause inflammation, damage the vasculature, and produce severe clinical complications.
