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Base-pair substitution that causes sickle cell anemia. The gene defect is a single nucleotide mutation of the β-globin gene, which results in glutamate being substituted by valine at position 6 of the β-globin chain. [62] Hemoglobin S with this mutation is referred to as HbS, as opposed to the normal adult HbA.
Lovotibeglogene autotemcel, sold under the brand name Lyfgenia, is a lentiviral gene therapy used for the treatment of sickle cell disease. [1] [3] [4] [5]The most common side effects include stomatitis (mouth sores of the lips, mouth, and throat), low levels of platelets, white blood cells, and red blood cells, and febrile neutropenia (fever and low white blood cell count), consistent with ...
Hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment for both alpha and beta thalassemia. It involves replacing the dysfunctional stem cells in the bone marrow with healthy cells from a well-matched donor.
HbC can combine with other abnormal hemoglobins and cause serious hemoglobinopathies. Individuals with sickle cell–hemoglobin C (HbSC), have inherited the gene for sickle cell disease (HbS) from one parent and the gene for hemoglobin C disease (HbC) from the other parent. Since HbC does not polymerize as readily as HbS, there is less sickling ...
Sickle cell disease is a blood disorder wherein there is a single amino acid substitution in the hemoglobin protein of the red blood cells, which causes these cells to assume a sickle shape, especially when under low oxygen tension.
Effectiveness was established based on achievement of transfusion independence, which is attained when the participant maintains a predetermined level of hemoglobin without needing any red blood cell transfusions for at least 12 months. Of 41 participants receiving betibeglogene autotemcel, 89% achieved transfusion independence. [5]
Treatment is the same as for patients with sickle cell disease. Patients may receive hydroxyurea to induce the protective effects of increased fetal hemoglobin production. They may also benefit from blood transfusions especially during vaso-occlusive crises.
In the most common variant of sickle-cell disease, the 20th nucleotide of the gene for the beta chain of hemoglobin is altered from the codon GAG to GTG. Thus, the 6th amino acid glutamic acid is substituted by valine—notated as an "E6V" mutation—and the protein is sufficiently altered to cause the sickle-cell disease. [7]