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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.
- Sickle Cell Anemia - StatPearls - NCBI Bookshelf - National Center for ...
The sickle cell mutation occurs when negatively charged...
- Sickle Cell Anemia - StatPearls - NCBI Bookshelf - National Center for ...
4 Σεπ 2023 · The sickle cell mutation occurs when negatively charged glutamate is replaced by a neutral valine at the sixth position of the beta-globin chain. The mutation is transmitted via Mendelian genetics and is inherited in an autosomal codominant fashion. [5]
29 Αυγ 2024 · Sickle cell anemia (SCA) is caused by homozygosity of hemoglobin S, a result of a missense mutation in the β-globin gene that substitutes valine for glutamine at the sixth amino acid in...
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...
This missense mutation results in the substitution of valine for the glutamic acid at the sixth residue of the β-globin chain. This inherited gene occurs in an autosomal dominant fashion. Patients with a homozygous inheritance of this gene present with very severe symptoms (HbSS).
27 Νοε 2019 · In 1949, the discovery of the abnormal sickle cell hemoglobin protein (HbS) β-globin chain revealed a mutation where glutamic acid is replaced with a valine (β6Glu→Val) (Figure 1) (Pauling et al., 1949). From this discovery came the pathophysiological mechanism based on the abnormal polymerization of deoxy-HbS (Bunn, 1986).
15 Σεπ 2003 · Clinical characteristics. Sickle cell disease (SCD) is characterized by intermittent vaso-occlusive events and chronic hemolytic anemia. Vaso-occlusive events result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, including the bones, spleen, liver, brain, lungs, kidneys, and joints.
