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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.
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.
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 Σεπ 2024 · Sickle cell anemia is the result of an inherited mutation that makes blood cells sickle shaped. Learn how to manage pain symptoms over the long-term.
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. A homozygous mutation leads to the severest form of SCD, ie, SCA- also called HBSS disease.
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.
18 Μαρ 2024 · Genetic testing is common for diagnosing sickle cell anemia. It involves analyzing a blood sample to identify specific mutations in the sickle hemoglobin gene, also known as the HBB...
