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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 ...
The test uses the principles of gel electrophoresis to separate out the various types of hemoglobin and is a type of native gel electrophoresis.After the sample has been treated to release the hemoglobin from the red cells, it is introduced into a porous gel (usually made of agarose or cellulose acetate) and subjected to an electrical field, most commonly in an alkaline medium.
Normal red blood cells are quite elastic and have a biconcave disc shape, which allows the cells to deform to pass through capillaries. In sickle cell disease, low oxygen tension promotes red blood cell sickling and repeated episodes of sickling damage the cell membrane and decrease the cell's elasticity. These cells fail to return to normal ...
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 ...
The production of red blood cells (or erythropoeisis) in the body is regulated by erythropoietin, which is a protein produced by the kidneys in response to poor oxygen delivery. [15] As a result, more erythropoeitin is produced to encourage red blood cell production and increase oxygen-carrying capacity.
Children with sickle-cell disease begin producing a defective form of hemoglobin called hemoglobin S instead, which form chains that cause red blood cells to change their shape from round to sickle-shaped. [35] These defective red blood cells have a much shorter life span than normal red blood cells (10–20 days compared to up to 120 days). [36]
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