The Sickle Cell Disorder

Genetic diseases are conditions that arise from an error in a person's DNA. These anomalies could result from a single mutation in a single genetic component or could be caused by the removal or addition of all the chromosomes. A deviation from the usual DNA sequence is a factor in hereditary diseases. One of these genetic disorders is the inheritance of a particular mutant gene that causes sickness (Wolters Kluwer Health, 2013). These conditions can be transmitted from a parent to their offspring. I narrowed down to sickle cell anemia after a thorough review of the genetic disorders that are a risk to me in my lifetime. This paper addresses reasons why the condition was chosen as a genetic disorder, mode of inheritance, common signs and symptoms.
Overview of sickle cell illness

Sickle cell Disorder (SCD) entails a collection of hereditary red blood cell ailments. Patients with these conditions possess abnormal hemoglobin by the name hemoglobin S; it’s contained in the red blood cells. The disease is a life disorder whose severity can differ from one individual to the other. For a person to have the diseases, then it’s a requirement that he or she must have inherited two sickle cell genes (Wolters Kluwer Health, 2013). Majority of the sickle cell anemia symptoms are directly linked to abnormally sickled shape red blood cells that block the normal movement of blood. The disease is serious since it affects hemoglobin which happens to be the oxygen-carrier protein in the red blood cells. Sickle blood cells are delicate and are usually at the risk of rupturing.

Signs and symptoms

Patients suffering from sickle cell, experience symptoms such as Dactylitis which is inflammation and swelling of both hands and feet. They may also suffer injuries and damages to the lung, heart and sometimes the eyes (NIH, 2017). These individuals also experience splenic sequestration which is a rapid assembly of blood in the spleen. Other symptoms include fatigue, bone infarcts, and leg ulcers. In infants and young children, they suffer from abdominal pain, fever, and pneumococcal bacterial infections. Adolescents develop aseptic necrosis and eye damages. In adults, the common issues are intermittent pain episodes, injury to the bones, muscles and other internal organs. The disease was selected as a genetic disease the patient must inherit sickle cell gene from the parents. The disorder is all about abnormality in genetic makeup that affects the hemoglobin.

Mode of Inheritance

It is acquired as an autosomal recessive ailment this means that the gene is not connected to a gender chromosome. The parent carrying it can, therefore, pass it to any child whether female or male. For it to happen the sickle cell gene must be inborn from both parents so that the baby will have two sickle cell genetic factors (Platt, 2016). Inheriting a single gene is known as the “carrier” state or sickle cell trait. During conception, a child acquires one collection of genes from the mother and the other from the father. These genotypes exist inside chromosomes. When an individual inherits two genes, they develop sickled hemoglobin (NIH, 2017). For a person to get the sickle cell disease, then both parents must be having the sickle cell trait. This condition will only occur if parents who have the trait give birth to a child who acquires genes which are affected, the disease cannot be spread through blood or contact with an infected person.

Problems Encountered

One of the major problems in the analysis is the fact that most people are not well informed about the sickle cell disease, they view it as a religious problem or a curse rather than a genetic problem. Illiteracy and ignorance is a huge hindrance to acquiring the necessary information. Most members of the family were reluctant to get tested since that would have a psychological effect on them. There is also the problem of insufficient or inaccurate medical records in the family that can be used to track genetic conditions which have occurred in the past. Further information that could help in making broad conclusions will include lab reports on the blood types, information on Rhesus factor and details on chromosomes (Wolters Kluwer Health, 2013). . Also, information on diseases that affected family members that are closely related to sickle cell, these disorders could be caused by environmental factors rather than genetic make-up.



The child born from parents with the sickle cell gene has one in four chances of acquiring the cell anemia. Therefore I will inform the child that for her to get the disease, she stands a 25 percent probability. Therefore the level of occurrence is low (Platt, 2016). Also, there is a one in two chances that an offspring will acquire sickle cell genes whereas there is a one out of two probabilities that a kid will receive a healthy genetic factor from one parent and a sickle genetic material from the other therefore at the end the child will experience the sickle cell trait.

KU Library Search

Terms used for the search include Hemoglobin, causes, and symptoms of sickle cell trait or anemia. There was a combination of search terms to get comprehensive details. The method of combining words resulted in the most results due to the number of information related to the search terms. There was the refining of searches to get specific details about the disease. This was also meant to classify and analyze details regarding their importance and relevance.













References

NIH. (2017). What Is Sickle Cell Disease? - NHLBI, NIH. Retrieved from https://www.nhlbi.nih.gov/health/health-topics/topics/sca

Platt, A. F., Eckman, J., & Hsu, L. L. (2016). Hope and destiny: The patient and parent's guide to sickle cell disease and sickle cell trait.

Silverstein, A., Silverstein, V. B., & Nunn, L. S. (2006). The sickle cell anemia update. Berkeley Heights, NJ: Enslow Publishers.

Wolters Kluwer Health. (2013). Professional guide to diseases. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins.