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Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. [1] The most common form is infantile Tay–Sachs disease, which becomes apparent around the age of three to six months of age, with the baby losing the ability to turn over, sit, or crawl. [1]
Other causes of splenomegaly (for example, Gaucher disease or hemoglobinopathies) can also predispose to infarction. Splenic infarction can also result from a sickle cell crisis in patients with sickle cell anemia. Both splenomegaly and a tendency towards clot formation feature in this condition.
Pneumonia is an inflammatory condition of the lung primarily affecting the small air sacs known as alveoli. [3] [14] Symptoms typically include some combination of productive or dry cough, chest pain, fever, and difficulty breathing. [15]
Photomicrograph of normal-shaped and sickle-shape red blood cells from a patient with sickle cell disease. Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal flexible, round shape. [29] It is caused by a change in one nucleotide, a point mutation [30] in the HBB gene.
Whereas normal adults have less than 1% of hemoglobin F, patients with only one disease gene have 5-30%. Patients with two disease copies can have hemoglobin F in up to 100% of red blood cells. [31] As other diseases such as sickle cell disease could also cause a higher level of hemoglobin F to be present, it can sometimes be misdiagnosed. [32]
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits.
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 cris
Defects of red blood cell membrane production (as in hereditary spherocytosis and hereditary elliptocytosis). [2] Defects in hemoglobin production (as in thalassemia, sickle-cell disease and congenital dyserythropoietic anemia). [2] Defective red cell metabolism (as in glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency ...