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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 disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders that are typically inherited. [2] The most common type is known as sickle cell anemia. [2] Sickle cell anemia results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2]
The cause of this difference was pinpointed in 1956 and 1957, when Vernon Ingram used protein fingerprinting (a combination of electrophoresis and chromatography) to show that the key difference between normal hemoglobins and sickle cell hemoglobins was a single difference in one chain of the protein: a glutamic acid residue on the normal ...
In collaboration with Linus Pauling, Itano used electrophoresis to demonstrate the difference between normal hemoglobin and sickle cell hemoglobin; their 1949 paper "Sickle Cell Anemia, a Molecular Disease" (coauthored also with S. J. Singer and Ibert C. Wells) [2] was a landmark in both molecular medicine and protein electrophoresis, though ...
Hemoglobin S/ beta thalassemia: common in African and Mediterranean populations, it is clinically similar to sickle-cell anemia. [35] Delta-beta thalassemia is a rare form of thalassemia in which there is a reduced production of both the delta and beta globins. It is generally asymptomatic. [36]
Hemoglobin A2 may be increased in beta thalassemia or in people who are heterozygous for the beta thalassemia gene. HbA2 exists in small amounts in all adult humans (1.5–3.1% of all hemoglobin molecules) and is approximately normal in people with sickle-cell disease. [1] Its biological importance is not yet known.
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.
The sickle cell trait provides a survival advantage against malaria fatality over people with normal hemoglobin in regions where malaria is endemic. The trait is known to cause significantly fewer deaths due to malaria, especially when Plasmodium falciparum is the causative organism.
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