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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]
Those who are heterozygous for the sickle cell allele produce both normal and abnormal hemoglobin (the two alleles are codominant with respect to the actual concentration of hemoglobin in the circulating cells). Sickle cell disease is a blood disorder wherein there is a single amino acid substitution in the hemoglobin protein of the red blood ...
Thus, it was not clear whether it was involved in sickle cell disease. Genetically, the abnormal hemoglobin was only in heterozygous condition. [22] The next year, Neel and his colleagues established that the hemoglobin is associated with sickle cell disease. [23] The hemoglobin was named hemoglobin III, [24] but hemoglobin C was eventually used.
Their study on sickle cell anemia was the first of many to occur at Hopkins. In 1940, Irving Sherman, a medical student at Johns Hopkins, correctly identified the deoxygenation of hemoglobin in sickle cell patients after he noted refraction patterns characteristic of deoxygenation when light was passed through the protein. [15] The ...
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.
The hemoglobin structural variants can be broadly classified as follows: [19] Sickle cell disorders, which are the most prevalent form of hemoglobinopathy. Sickle hemoglobin (HbS) is prone to polymerize when deoxygenated, precipitating within the red blood cell. This damages the RBC membrane resulting in its premature destruction and consequent ...