Genome refers to the genetic material of an organism. It contains the complete set of DNA. DNA is made up of two strands which together form a double helix (Initial sequencing and analysis of the human genome, 2001, p. 860). Each strand is made up of nucleotides A, C, G and T. All human beings have the same composition, nonetheless, it is their arrangement in the strand that makes the difference in anatomy. The Genome has all the necessary information to build and maintain the organism. The study of human genome helps in discovery of genetic inheritance and possible diseases carried from the parents and correct them. The genome can also be used to study human migration in the past by examining similarities. A fetus picks its genome from both parents and is made up of of traits carried forward by the parents.
Sickle cell diseases is a genetic disorder caused when the fetus inherits the gene from both parents. It is a type of a Mendelian inheritance condition and occurs in a single gene. It has recessive characteristics meaning that it only fully manifests when both parents are carriers, and the fetus inherits the trait from both of them. Hence the fetus has three possible outcomes when they have such parents; it is either a carrier (50% chance), completely does not pick any of the sickle cell traits (25% chance) or has the condition (25% chance). The disease is caused by the mutation of the gene that is responsible for creating hemoglobin the protein that carries oxygen in red blood cells. Standard human beings have hemoglobin A, consisting of two alpha-globin and two beta-globin chains. Sickle cell anemia is caused by the mutation of the beta-globin chain that causes the creation of long fibers in hemoglobin that clump up together (Platt, 2008). This reduces red-cell deformability after deoxygenation and destroys the cell membrane. The DNA contains a message on how the cells should be formed, hence if there is mutation it will be reflected in all other cells in the organism. This particular genetic mutation, therefore, sends information that the red blood cells created do not have hemoglobin, changing the shape of the cell to resemble that of a sickle.
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The symptoms of sickle cell anemia vary in intensity from one individual to another. All patients have acute chest pain which might differ in strength. The trait is not revealed at birth only when the infant is about four months old. Most hospitals in the US, however, require that all newborn are tested for the trait or if they are possible carriers of the disease for early diagnosis and treatment. A recent study has also revealed that the disease can be discovered in the mother’s blood before birth. These results can show the baby’s entire genome. Physical symptoms of the disease include shortness of breath, chest pains, dizziness, pale skin due to anemia, yellow eyes and skin, a condition known as jaundice, and cold hands and feet.
The life quality of an individual with sickle cell anemia is depicted as being unmanageable in recent studies on those suffering from it. The disease affects the person and their family permanently. Almost the whole population of those suffering from the condition find it hard to obtain permanent employment hence low income rates (Pereira et al, 2003). They also have to live most parts of their lives in the hospital getting treatment or blood transfusion which are often costly. Most of those who suffer from sickle cell hardly enjoy leisure since most normal adults prefer sports and other strenuous activities that they can’t participate in. About a third of the population get married when they reach the age. The individual might need too much attention that the spouse might find hard to accord. Others suffering from the disease fear passing it on to their offspring. The silver lining in having the condition is that the patients do not suffer from diseases that are transported through the red blood cells nucleus for instance malaria. The disease is said to have originated from Africa and spread to other regions. This is revealed by the fact that most of the infected persons have African links even in diverse populations.
References
Initial sequencing and analysis of the human genome. (2001). Macmillan . Retrieved from https://deepblue.lib.umich.edu/bitstream/handle/2027.42/62798/409860a0.pdf
Pereira, S. A. dos S., Brener, S., Cardoso, C. S., & Proietti, A. B. de F. C. (2013). Sickle Cell Disease: quality of life in patients with hemoglobin SS and SC disorders. Revista Brasileira de Hematologia E Hemoterapia, 35(5), 325–331. http://doi.org/10.5581/1516-8484.20130110
Platt, O. (2008). Hydroxyurea for the Treatment of Sickle Cell Anemia. Massachusetts Medical Society . Retrieved from http://summalearner.com/Med_Team/Med_Team_A_July_14_Resources_files/Hydroxyurea%20Sickle%20Cell.pdf
