ESSAY: Genetic Disorder

This is the Critical Assignment for Bio143L.

In this assignment, you will research a genetic disorder, its inheritance, symptoms, diagnosis, and treatment. Student will write a 3-5 research paper in APA format, while including all dimensions of the critical assignment “Rubric”, a title page, and a reference page. This is the Critical Assignment for this course and must be passed at an acceptable rate in order to pass the course.

ANSWER

Genetic Disorder: Sickle Cell Anaemia

A genetic disorder refers to a health condition resulting from abnormalities such as mutations and other changes in an individual’s genome. One of the most common genetic disorders is sickle cell anaemia, which affects 1 in every 625 individuals (Ware et al., 2017). The disease is a blood disorder created by abnormal haemoglobin, present in a person’s DNA. This disease gets its name from the shape of the red blood cells, which look like a c-shaped farm tool called a sickle. The disorder is also known as HbS disease, sickling disease and Hemoglobin S disease.

Inheritance

Sickle cell anaemia is an inherited disorder, a condition resulting from lack of enough and healthy red blood cells to carry oxygen needed by the body. Besides, these rigid sticky cells constantly get stuck in the small blood vessels slowing the flow of blood and oxygen to the body. Its inheritance is by the autosomal recessive pattern, which means that two copies of the abnormal DNA have to be present for the sickle cell disease to develop in a person. This means that the disorder can be passed on by two carriers (GARD, 2017). The health of the carrier is hardly ever affected since they have a recessive gene and a dominant gene. In this instance, the parents of the affected individual each have a copy of the mutated gene but show no symptoms of the condition. As a result, the parents would be referred to as carriers of the sickle cell trait. If two people with the trait have a child, there is a 25% chance that the child will have sickle cell anaemia. There is a 50% chance that the child will be a carrier like each of its parents and a 25% likelihood that the child will neither be a carrier nor have the condition. 

Symptoms The signs and symptoms associated with sickle cell anaemia vary from individual to individual as well as change over time. They also tend to appear at around five months of age in a child. The first symptom associated with this condition is anaemia, due to the shortage of red blood cells in the body (MayoClinic, 2020). Without sufficient red blood cells in the body, it is not possible to get enough oxygen flowing throughout the body…