Roslyn, a six-year-old, is attending public school for the first time. Her parents brought her to the clinic and stated, “she appears to have pain in her legs and won’t participate in playtime.” The parents noticed recently Roslyn appears pale and acts weak. Roslyn is diagnosed with sickle cell anemia. After her parents and siblings undergo genetic testing, it is found that Roslyn is the only family member with the disease. Purchase the answer to view it Purchase the answer to view it

Sickle cell anemia is a genetic blood disorder that affects the structure of red blood cells. In individuals with sickle cell anemia, the red blood cells become misshapen, taking on a sickle, or crescent, shape. This abnormal shape causes the cells to become sticky and rigid, leading to a variety of health problems.

Sickle cell anemia is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene in order to develop the disease. In the case of Roslyn, it is likely that both of her parents are carriers of the sickle cell gene, meaning they each have one copy of the mutated gene but do not exhibit any symptoms of the disease.

When a person has sickle cell anemia, their red blood cells can become stuck in small blood vessels, causing a blockage known as a sickle cell crisis. Symptoms of a sickle cell crisis can vary, but may include pain, swelling, and difficulty breathing. In Roslyn’s case, her parents reported that she was experiencing pain in her legs and was not participating in playtime, indicating that she may be experiencing a sickle cell crisis.

In addition to sickle cell crises, individuals with sickle cell anemia may also have an increased risk of infections, anemia, strokes, and organ damage. The abnormal shape of the red blood cells can also cause them to break down more quickly than normal cells, leading to a decreased lifespan for these cells and an increased production of new cells by the bone marrow. This increased demand on the bone marrow can further contribute to anemia.

Genetic testing can be used to determine if an individual is a carrier of the sickle cell gene or if they have the disease themselves. In the case of Roslyn, it was discovered that she is the only family member with sickle cell anemia, indicating that both of her parents likely have one copy of the mutated gene but do not have the disease themselves. This is a common pattern in autosomal recessive disorders, as carriers of the gene typically do not show any symptoms.

The diagnosis of sickle cell anemia in Roslyn indicates that she has inherited two copies of the mutated sickle cell gene, one from each parent. This diagnosis has important implications for her health and well-being, as individuals with sickle cell anemia require ongoing medical management to prevent and treat complications associated with the disease.

Treatment for sickle cell anemia typically involves a combination of medications, such as pain relievers and antibiotics, to manage symptoms and prevent infections. In some cases, blood transfusions may also be necessary to help increase the number of healthy red blood cells in the body. Additionally, individuals with sickle cell anemia may benefit from lifestyle modifications, such as staying hydrated and avoiding situations that may trigger a sickle cell crisis.

In conclusion, sickle cell anemia is a genetic blood disorder characterized by the presence of misshapen red blood cells. It is an autosomal recessive disorder, meaning that both parents must be carriers of the mutated gene for their child to develop the disease. Roslyn’s diagnosis of sickle cell anemia indicates that she has inherited two copies of the mutated gene, one from each parent. This diagnosis has important implications for her health and will require ongoing medical management to prevent and treat complications associated with the disease.