Disease: Sickle-Celled Anemia
There are various different causes of Sickle Cell Disease (SCD) of happening, mutation being one of the famous cases. Earlier, it has been shown how the structure affects roles (irons and hemes in Haemoglobins) and it is clear that every single atom in the molecule has their job/role.
However, when a sequence or even one atom is changed - or even worse - gone, then the whole structure will have a different role and will do different things.
People who have SCD has an abnormal hemoglobin, known under the name Hemoglobin S or Sickle Hemoglobin in their blood cells. When a person posses two hemoglobin S genes, they will produce Hemoglobin SS and the disease is then called Sickle Cell Anemia.
However, when a sequence or even one atom is changed - or even worse - gone, then the whole structure will have a different role and will do different things.
People who have SCD has an abnormal hemoglobin, known under the name Hemoglobin S or Sickle Hemoglobin in their blood cells. When a person posses two hemoglobin S genes, they will produce Hemoglobin SS and the disease is then called Sickle Cell Anemia.
Normal blood cells are disk-like with no hole in the middle. This is because the blood cells needs to be flexible to move in small, big, or crowded blood vessels to deliver oxygen.
However, sickle cells are shaped like a sickle, and is usually very stiff, causing them to stick to the blood vessels. This can block blood vessels and prevent oxygen to be delivered. Moreover, sickle shaped blood cells die in about 10 to 20 days, while normal blood cells die in about 120 days. Our body will then have trouble keeping up with the production of blood cells and will then have a lower amount of blood cells than the usual one.
However, sickle cells are shaped like a sickle, and is usually very stiff, causing them to stick to the blood vessels. This can block blood vessels and prevent oxygen to be delivered. Moreover, sickle shaped blood cells die in about 10 to 20 days, while normal blood cells die in about 120 days. Our body will then have trouble keeping up with the production of blood cells and will then have a lower amount of blood cells than the usual one.
Structure and impact to function
The mutation changes the hydrophilic glutamic acid amino acid to hydrophobic L-valine. This means it modifies the walls that surrounds the hydrophobic atom with another hydrophobic atom, and their inner structure changes from a flexible disc to a long, inflexible chain, causing them to change their shape to a sickle.
This changes 1 amino acid and changes the structure to a sickle shape. Actually, the blood cells still have their tasks as it should, HOWEVER, since they are different in shape, they can never accomplish their task in this structure.
This changes 1 amino acid and changes the structure to a sickle shape. Actually, the blood cells still have their tasks as it should, HOWEVER, since they are different in shape, they can never accomplish their task in this structure.