Point mutation high altitude, for example), the absence of a polar amino acid at position six of the β-globin chain promotes the non-covalent polymerisation (aggregation) of hemoglobin, which distorts red blood cells into a sickle shape and decreases their elasticity. Hemoglobin is a protein found in red blood cells, and is responsible for the transportation of oxygen through the body. There are two subunits that make up the hemoglobin protein: beta-globins and alpha-globins. Beta-hemoglobin is created from the genetic information on the HBB, or "hemoglobin, beta" gene found on chromosome 11p15.5. A single point mutation in this polypeptide chain, which is 147
Packed red blood cells used to restore oxygen-carrying capacity in people with anemia due to trauma or other medical problems, and are by far the most common blood component used in transfusion medicine. Historically they were transfused as part of whole blood, but are now typically used separately as RBCs and plasma components. The process of identifying a compatible blood product for transfusion is complicated. Side effects can include allergic reactions including anaphylaxis, red blood cell breakdown, fluid overload, infection, and lung injury. Giving incompatible RBCs to a person can be fatal. With current testing methods in high-income countries the risk of infection is