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. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder.
Sickle cell disease affects the hemoglobin within your red blood cells. 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.
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]
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).
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.
Sickle cell disease is an inherited genetic abnormality of hemoglobin (the oxygen-carrying protein found in red blood cells) characterized by sickle (crescent)-shaped red blood cells and chronic anemia caused by excessive destruction of the abnormal red blood cells.
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.
