Sickle cell disease is a clinical disease that manifest as a result of inheritance of abnormally formed hemoglobin beta chain. The abnormal beta chain is formed as a result of interchange at position six of the amino acid chain where valine is substituted for glutamate. This simple amino acid substitution changes the physico-chemical properties of the hemoglobin molecules which when deoxygenated, aggregate into elongated crystals and distort the erythrocytes into rigid elongated sickle shapes.The sickle shape often cannot maneuver through the small blood vessels in the body resulting in accumulation and blockage thereby blocking passage of other nutrients materials to the distant structure supplied by the vessel. The result is reduced blood, oxygen, and nutrient supply to important structures of the body. The combination of these effects results in what is known as occlusive crisis in sickle cell patient.
The article discussed how one can know the status of oneself through hospital laboratory technique called “hemoglobin electrophoresis”.The technique uses electric charge to separate component of the two globins present in the hemoglobin. The differential movement is measured to determine the trait. The article explains some medical issues that can be faced in an individual with the disease. This ranges from “anemia, jaundice and gallstones” aggregation along the bile duct. Organ involvements are also possible from insufficient blood flow to them. They are also prone to microbial infections especially bacteria (SCDAA, 2006).
According to the article, the treatment option for the sickle cell patient is not yet a definite one as the trait cannot be removed from the blood totally. The health care in the management involves early treatment by prevention of aggravating factors of the disease when diagnosed early enough at birth. There is antibiotics administration measure to protect against infection mentioned example is “penicillin” as a prophylaxis. Other treatment measures are surgery, intravenous fluid intake, pain management and psychosocial help.
Iron overload is the problem with blood transfusion since body metabolism of iron does not increase with overload from therapeutic infusion. Administration of regulated dose of a compound known as Hydroxyurea helps in reducing the complications in a way (SCDAA, 2006). Important Lesson from Biology of Sickle cell disease The study of living organism such as human being has been improved with the discovery of this disease in biology.Biology made us understand the basis of the disease in order not to be caught unaware and also in preparation for preventive measure that can save a million lives from falling victims. Theoretically knowledge of the biology of sickle cell disease reveals that other hemoglobin abnormalities exist. We have varying ability or affinity of different hemoglobin disorder to sickle in case of other amino acid substitution. Biology explains that it is for this reason Hemoglobin C is not as complicated as that of S.Red blood cells with normally formed hemoglobin are soft, round and smooth with capacity to progressively squeeze along the channel of the small blood vessels.
The addition of oxygen molecule in the lung and subsequent exchange that occurs before arriving at the tissue level facilitates the crystallization into abnormal shape. Sickle cells have affinity for each other thereby causing formation of complex aggregate. As such the life span of that red blood cell drop from a normal one hundred and twenty days to say sixteen days.In addition to the above understanding Biology offers us in unraveling the sickle cell abnormality, we are made to understand that there occurs a distinction between the disease of sickle cell and an ordinary sickle cell trait. The trait does not yet have a clinical manifestation such as the occlusive crisis mentioned earlier. The trait occurs as a recessive inheritance of a sickling trait along with normal hemoglobin A.
that is sickle cell trait is Hemoglobin AS or AC with the abundance of A globins chains in most instance.Secondly, the study of biology has made us to gain insight into the fact that the sickle cell disease is by inheritance and contagious like some infection. It is through an outcome of maternal or paternal Mendelian crossing of sickle traits. Biology explains that just as blood group, hair color another genetic or phenotypic trait inheritance, sickle cell trait is inherited in like manner. Each globin gene responsible for the trait is inherited separately from the parents in an individual.
This means the patter of inheritance is autosomal recessive.It has to be inherited homogenously for the disease to manifest. With the understanding from biology a parent who is heterogeneous for the trait (AS) and the other having no trait at all (AA) cannot produce an offspring with sickle cell disease but only half a chance of replicating the sickling trait. Conversely, one with sickle cell anemia (SS) and the other with normal (AA) has 100% chance of sickle cell trait only (AS).
Thirdly, a parent with sickle cell anemia (SS) with the other with sickle cell trait (AS) has half the chance of sickle cell anemia child (SS).Lastly on the pattern of inheritance, both parents with sickling trait (AS) have just a quarter chance of giving birth to a child with sickle cell disease (SS) (SCDAA, 2006). The Relevance to My Life Through this information, I really discovered that human being can take some measures to prevent the disease from spreading by simple understanding of it mode of inheritance. I have learnt that I need to know my blood hemoglobin genotype in order to direct the choice of who I am going to marry and who I cannot marry despite the issue of love in case I have the trait.I did gain some knowledge in order to publicly tell my friends and other members of the family about the nature of the disease, how it is gotten and how to prevent it. The knowledge adds value to my life in that I can now assist people who suffer from this disease in a way, to prevent them from having some of the preventable complications.
This will help prolong their life. Since I can render this information and safe lives, I now have some values to share with health care service providers and safe lives. This will make my life more fulfilling by living a purposeful existence on earth to safe people.