Sickle cell anemia
Sickle cell is an inherited disease and it is caused by a mutation that occurs in the beta sub units of the haemoglobin. Haemoglobin is a tetrameric protein made up of 2 alpha subunits and 2 beta subunits and it is the essential part of the blood responsible for oxygen transportation. Sickle cell is a disease that results from a substitution of a polar amino acid known as glutamate with a non polar one valine at position six of the beta polypeptide unit of haemoglobin. The substitution happens as a result of a change in one of the bases in the beta globin gene from adenine to thymine.
As a result of this mutation, the beta polypeptide chains become sticky in low oxygen conditions because the valine sticks out of the chain and interacts with neighbouring non-polar amino acids. The molecules stick together and finally develop into a massive fibrous polymer that causes the distortion of the red blood cells into a “c” or sickle. The normal red blood cell is dough- nut shaped and soft so it has a larger surface area to carry oxygen efficiently and can squeeze through blood vessels. As opposed to the normal cell, the sickle cell carries less oxygen and it is stiff so it cannot squeeze through blood vessels easily and therefore has a high tendency of blocking arteries that supply oxygen to the cells. This could lead to organ failure and damage for example stroke, heart attack or kidney failure .
Newborns have a different heamoglobin structure known as hemoglobin F which consists of two alpha and two gamma subunits. This changes to 2 alpha and 2 beta subunits after around 6 months of age however this means sickle cell anemia isn't usually diagnosed until infancy. Some symptoms that may be seen in infants indicating this disease are pain and swelling in hands and feet and throughout childhood this pain can spread to the back, stomach and chest