Currently the only cure for sickle cell disease is a stem cell transplant. A stem cell transplant involves depletion of the affected bone marrow using radiotherapy or chemotherapy, and replacement with healthy donor stem cells for generation of new healthy blood cells. However, it is often associated with difficulties and complications such as finding suitable [...]
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Sickle cell disease can be diagnosed through genetic testing and various blood tests. Genetic testing Genetic testing of the HBB gene can diagnose sickle cell disease. Three specific genetic mutations in the HBB gene, 20A>T, 19G>A and 79G>A are examined during genetic testing to determine the presence of hemoglobin S, C and E respectively. Genetic [...]
The signs and symptoms of sickle cell disease typically first appear in early childhood. The severity of the symptoms depends on the type of sickle cell disease and varies between affected individuals. If left untreated, it could lead to organ damage and other serious complications. In sickle cell disease, red blood cells become sickle shaped [...]
Hemoglobin is the protein in red blood cells that carries oxygen to the rest of the body. Normal hemoglobin (HbA) is made up of four protein subunits: two α-globin chains and two β-globin chains. Sickle cell disease (SCD) is caused by genetic mutations in the HBB gene. HBB encodes the hemoglobin β-globin subunit. Different genetic [...]
Sickle cell disease (SCD) is a group of inherited blood disorders characterized by the presence of abnormal hemoglobin, leading to the distortion of red blood cells into a sickled shape. Common symptoms of SCD involve chest pain, infections, jaundice and anemia. The symptoms of this disorder can be aggravated under stress, dehydration, temperature change, low [...]