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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.
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...
The sickle hemoglobin (HbS) occurs as a single nucleotide mutation (GAG/GTG) in the sixth codon of the β-globin gene. This missense mutation results in the substitution of valine for the glutamic acid at the sixth residue of the β-globin chain.
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). From this discovery came the pathophysiological mechanism based on the abnormal polymerization of deoxy-HbS.
26 Μαΐ 2020 · Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels.
Sickle cell anemia is caused by point mutations in the HBB gene, which codes for β-subunit, where adenine is substituted by thymine (GAG > GTG) at codon 6 of the HBB gene. As a result of nucleotide substitution, the amino acid is altered, and glutamic acid is replaced by valine resulting in hemoglobin S (HbS) formation.
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]
