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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...
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...
9 Σεπ 2020 · This study aims to investigate the effects of single nucleotide polymorphisms in genes encoding drug-metabolizing enzymes and solute carriers on hydroxyurea response, in patients with sickle cell anemia.
25 Φεβ 2024 · Identify characteristic features of sickle cell trait, distinguishing them from other hemoglobinopathies. Screen individuals for sickle cell trait, considering familial history and genetic factors. Differentiate between sickle cell trait and sickle cell disease, ensuring accurate diagnosis and appropriate counseling.
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).
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 genetic mutations and modifier genes that result in increased or decreased severity of the disease are available.
