The topic of focus in this essay is sickle cell disease, which is a genetically inherited disorder that affects the blood. In this essay the aim is to provide a description of sickle cell disease in relation to how it is inherited and how it affects a person’s health. The essay will follow an order as follows; firstly, the pattern of inheritance will be defined, then the biology of the disease will be explored and lastly the techniques by which the disease is diagnosed will be described. Pattern of Inheritance Sickle cell disease occurs because of a mutation in the beta-globin gene (1). It is an autosomal recessive disease, which means that two copies of the mutated gene, one from each parent, are required for the disease to manifest. If a …show more content…
Dactylitis is observed in children with sickle cell disease, which is painful swelling of the digits due to clogging of blood flow in hands and feet. As the patients life progresses other bones are affected causing sickle cell pain crises and avascular necrosis (12). Red blood cells can also clog up the spleen which can lead to an infarct to the spleen as well as an enormous backup of blood in the spleen (splenic sequestration) which can be life threatening. Over time splenic infarcts can scar the spleen so much that it results in an auto-splenectomy. Without a functional spleen a person is vulnerable to bacterial infections such as pneumonia, influenza, meningitis and salmonella (6). Sickle red blood cells can also form blockages in the cerebral vasculature causing brain diseases such as stroke (13). Sickle red blood cells can get stuck in the blood vessels of the lungs leading to acute chest syndrome (14). In the kidneys, clogging can cause necrosis which causes blood and proteins to enter the urine (15). Another problem that men experience is priapism, a painful prolonged erection due to blockage of capillaries in the penis