Αποτελέσματα Αναζήτησης
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.
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]
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).
22 Δεκ 2022 · Symptoms can include: Anemia. Sickle cells break apart easily and die. Typical red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells.
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).
Sickle cell disease (a hemoglobinopathy) causes a chronic hemolytic anemia occurring commonly in people with African ancestry. Sickle cell anemia is caused by homozygous inheritance of genes for hemoglobin (Hb) S or Hb S beta 0 thalassemia. Hemoglobinopathies are genetic disorders affecting the hemoglobin molecule.
