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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.
A genetic mutation causes abnormal hemoglobin to clump together, causing the red blood cells to turn sickle shaped. These sickle-shaped cells cause blockages in your blood flow, which can lead to anemia, pain, infections and severe complications. Sickle Cell Disease Treatment. Find a Doctor and Specialists.
4 Σεπ 2023 · Sickle cell anemia is an inherited disorder of the globin chains that causes hemolysis and chronic organ damage. Sickle cell anemia is the most common form of sickle cell disease (SCD), with a lifelong affliction of hemolytic anemia requiring blood transfusions, pain crises, and organ damage.
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...
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.
22 Δεκ 2022 · Symptoms of sickle cell anemia usually appear around 6 months of age. They vary from person to person and may change over time. 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.
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.
