Sickle Cell Disease - Research Paper Example

Due to the abnormal haemoglobin formation, this oxygen delivery is affected. The red blood cells also lose their normal functional capacity and acquire a sickle shape and this leads to anaemia in the patient. These individuals are also more prone to infections (Bloom 1995; Govan et al 1995; Ganong 2005). The image above shows the difference between the normal shaped red blood cells and the red blood cells of sickle cell disease (National Heart Lung and Blood Institute 2011). Each parent contributes to the genetic makeup of an individual.

Half of the genes are inherited from mother and the other half from father. Some traits are completely governed by the type of genes present in the body like colour of eyes and height while others may be influenced by the environment like athletic abilities. Although the parents make an equal contribution of genes but their effect is not always the same. Some genes are dominant and some are recessive. The dominant gene produces its effects in all cases while the recessive gene has to be present in a pair to produce the desired effects.

HbS which is the gene implicated in the causation of sickle cell disease is a recessive gene. . ase If one parent is diseased and the other is normal If both the parents are carriers of the defective gene If one parent is carrier and the other is normal Both the parents are neither carriers nor do they suffer from the disease The chance of transmitting the disease is 100% in the case when both the parents of a child suffer from sickle cell disease. If one parent is diseased and the other is carrier of sickle cell trait, the chance of developing disease is reduced to 50% and if one parent is diseased and the other is normal then there is 0% chance of disease development however it will produce sickle cell traits in the children (Bloom 1995).

The figure above shows the “Genetic pedigree” of sickle cell disease.( Shiverdecker 2005) The clinical manifestations of sickle cell disease vary with the age. The major complication associated with the disease is chronic low levels of haemoglobin while some other complications include bacterial infection, splenic sequestration while stroke, renal disease, pulmonary hypertension, leg ulcers depict the organ damage in long standing disease. The infection from bacteria results from the reduced functioning of the spleen or asplenia.

Asplenia occurs due to the continuous destruction of sickle shaped red blood cells in the spleen which results in the affecting the normal functional capacity of the organ. Hence, spleen is the first organ to be damaged. Splenic sequestration is characterized by the enlargement of the organ and decreased Hb levels along with thrombocytopenia present occasionally. This has been a common cause of death due to sudden circulatory collapse. Acute chest syndrome affect almost 50% of the patients and it is the second leading cause of emergency.

Adults are generally more affected. In acute chest syndrome,