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]
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...
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.)
15 Σεπ 2003 · Diagnosis. The term "sickle cell disease" (SCD) encompasses a group of disorders characterized by the presence of at least one hemoglobin S allele (HbS; p.Glu6Val in HBB) and a second HBB pathogenic variant resulting in abnormal hemoglobin polymerization. SCD (Hb S/S) caused by the homozygous HBB variant p.Glu6Val is the most common cause of SCD.
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).
DNA testing can be used for prenatal diagnosis or to confirm a diagnosis of the sickle cell genotype. Screening of neonates involves hemoglobin electrophoresis. Screening and diagnosis in children and adults involve examination of the peripheral smear, hemoglobin solubility testing, and hemoglobin electrophoresis.
