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Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele (is homozygous).
114,800 (2015) [8] Sickle cell disease ( SCD ), also simply called sickle cell, is a group of hemoglobin-related blood disorders typically inherited. [2] The most common type is known as sickle cell anemia. [2] It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2]
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.
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.
D001799. MedlinePlus. 003638. LOINC. 30341-2. The erythrocyte sedimentation rate ( ESR or sed rate) is the rate at which red blood cells in anticoagulated whole blood descend in a standardized tube over a period of one hour. It is a common hematology test, and is a non-specific measure of inflammation .
Diagnosis. To aid with determining the underlying cause of the normocytic anemia, a lab test is done on reticulocyte count. [2] A reticulocyte count that is high, normal or low will aid with the classification process. A high reticulocyte count signifies that bone marrow processes are normal.
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-Hb Lepore Boston syndrome is a type of sickle cell disease (HbS) that differs from homozygous sickle cell disease where both parents carry sickle hemoglobin. In this variant one parent has the sickle cell hemoglobin the second parent has Hb Lepore Boston, the only one of the three variants described in association with HbS.
Sickle-cell disease: 53 Sanfilippo syndrome [citation needed] Tay–Sachs disease: 53 Wet (dominant) or dry (recessive) earwax; Non-Mendelian traits. Most traits (including all complex traits) are non-mendelian. Some traits commonly thought of as Mendelian are not, including: Eye Color; Psychiatric diseases; Hair color; Height
Diagnostic tests include DNA sequencing, hemoglobin electrophoresis, and high-performance liquid chromatography. Treatment. 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.