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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.
The mutation which causes sickle cell disease results in an abnormal hemoglobin known as hemoglobin S (HbS), which replaces HbA in adults. [19] The human genome contains a pair of genes for β-globin; in people with sickle cell disease, both genes are affected and the erythropoietic cells in the bone marrow will only create HbS.
Hemoglobin C is found most abundantly in areas of West Africa, such as Nigeria, where Yorubas live. [15] [16] [17] Hemoglobin C gene is found in 2-3% of African-Americans [4] while 8% of African-Americans have hemoglobin S (Sickle) gene. Thus Hemoglobin SC disease is significantly more common than Hemoglobin CC disease.
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
Hemoglobin electrophoresis is a blood test that can detect different types of hemoglobin. The test can detect hemoglobin S, the form associated with sickle cell disease, as well as other abnormal types of hemoglobin, such as hemoglobin C. It can also be used to investigate thalassemias, which are disorders caused by defective hemoglobin production.
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. Patients may be offered chemoprophylaxis with penicillin.
Sickle cell disease is a group of inherited blood disorders, caused by a genetic abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [57] Under certain circumstances, this leads to the red blood cells adopting an abnormal sickle -like shape; with this shape, they are unable to deform as they pass through capillaries ...
Hemoglobin C disease; Hemoglobin E disease; Hemoglobin SC disease; Hemoglobinopathy; Hemoglobinuria; Hemolytic anemia lethal genital anomalies; Hemolytic-uremic syndrome; Hemophagocytic lymphohistiocytosis; Hemophagocytic reticulosis; Hemophilia A; Hemophilic arthropathy; Hemophobia; Hemorrhagic fever with renal syndrome; Hemorrhoid ...