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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. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder.
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...
Abnormal hemoglobin in sickle cell hemoglobinopathies: 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.
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...
25 Ιουν 2024 · Sickle hemoglobin (Hb S, alpha2:beta S 2) is a result of a specific point mutation in the gene HBB, which encodes hemoglobin beta chains. It substitutes valine for the normal glutamic acid at the seventh amino acid (HBB p.glu7val). (See 'Sickle hemoglobin' below.)
3 Μαρ 2022 · Sickle cell disease (SCD), which affects approximately 100,000 individuals in the USA and more than 3 million worldwide, is caused by mutations in the βb globin gene that result in sickle hemoglobin production.
15 Μαρ 2018 · Sickle cell disease (SCD) is an umbrella term that defines a group of inherited diseases (including sickle cell anaemia (SCA), HbSC and HbSβ-thalassaemia, see below) characterized by...
