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Problems in sickle cell disease typically begin around 5 to 6 months of age. [1] A number of health problems may develop, such as attacks of pain (known as a sickle cell crisis) in joints, anemia, swelling in the hands and feet, bacterial infections, dizziness [9] and stroke. [1]
Symptoms and signs. Sickle cell trait is a hemoglobin genotype AS and is generally regarded as a benign condition. However, individuals with sickle cell trait may have rare complications.
Some of these disorders are known by fanciful and cryptic names like sickle-cell anemia, thalassaemia, glucose-6-phosphate dehydrogenase deficiency, ovalocytosis, elliptocytosis and loss of the Gerbich antigen and the Duffy antigen.
Sickle cell anemia is a disease in which the body produces unusual sickle shaped of red blood cells. They contain abnormal haemoglobin which leave them curved. The sickle-shaped red blood cells carry less oxygen to your tissues compared to normal red blood cells and they may cause blockage to the flow of blood to your organs by stucking in your ...
Sickle Cell Anemia, a Molecular Disease. " Sickle Cell Anemia, a Molecular Disease " is a 1949 scientific paper by Linus Pauling, Harvey A. Itano, Seymour J. Singer and Ibert C. Wells that established sickle-cell anemia as a genetic disease in which affected individuals have a different form of the metalloprotein hemoglobin in their blood.
There may be signs of specific causes of anemia, e.g. koilonychia (in iron deficiency), jaundice (when anemia results from abnormal break down of red blood cells – in hemolytic anemia), nerve cell damage (vitamin B 12 deficiency), bone deformities (found in thalassemia major) or leg ulcers (seen in sickle-cell disease).
Symptoms: acute, severe pain: Diagnostic method: There is no test to confirm a vaso-occlusive crisis, but tests can be done to rule out other causes. Patients with vaso-occlusive crisis present with pain (mild to severe) and a history of sickle cell anemia. Differential diagnosis: Neuropathic pain, hyperalgesia, osteomyelitis
Sickle cell anemia: 11p15: P Siderius X-linked mental retardation syndrome: PHF8: X-Linked Recessive Sideroblastic anemia: ABCB7, SLC25A38, GLRX5: recessive Sly syndrome: GUSB: recessive 1:250,000 Smith–Lemli–Opitz syndrome: DHCR7: recessive 1:20,000-60,000 Smith–Magenis syndrome: 17p11.2 dominant 1:15,000-25,000 Snyder–Robinson ...
Signs and symptoms. Patients with sickle cell-beta thalassemia may present with painful crises similar to patients with sickle cell disease [citation needed] Cause. Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele from the other. Mutations
Hemoglobin variants are a part of the normal embryonic and fetal development. They may also be pathologic mutant forms of hemoglobin in a population, caused by variations in genetics. Some well-known hemoglobin variants, such as sickle-cell anemia, are responsible for diseases and are considered hemoglobinopathies.
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