Reference no: EM133947628

Disscusion post: Given the information provided in the case study, I believe this individual suffers from Sickle cell disease (SCD). According to Rare Disease Advisor, SCD is an autosomal mutation of the hemoglobin chain on chromosome 11 that causes red blood cells to be misshapen and occurs mostly in non-Hispanic Black individuals (Habet, n.d., p. 1). I came to this conclusion after losing at the peripheral smear of the blood sample provided that showed sickled cells, target cells, and Howell-Jolly bodies which are hallmarks of sickle cell disease with splenic injury along with the patient's complaint of severe pain with multiple episodes reported over the last year.

Genetic mutations associated with SCD

SCD is a genetic mutation in and of itself, however there are a few genetic mutation types of SCD. "The most prevalent types of sickle cell disease are sickle cell anemia, sickle cell-thalassemia disease, and sickle cell-HbC disease" (Rogers, 2023, p. 997). Each of these disorders are considered autosomal recessive disorders that affect the hemoglobin cell causing it to be mishappen.

Presenting Symptoms

Within the case study provided, the patient presents with complaints of severe pain that started in his legs and has gone to his back with no known trauma. The patient reports that he has had similar episodes of the same over the past year that were associated with dehydration or infection. These are pertinent symptoms to SCD because the "sickling process is an occasional intermittent phenomenon that can be triggered by stressors such as decreased oxygen tension of the blood, acidosis, increased plasma osmolality, decreased plasma volume, and low temperature" (Rogers, 2023, p. 997). The sickled shape of the hemoglobin molecule causes microvascular occlusion which results in pain for the patient. When the patient describes his previous episodes there is a stressor identified that would start the sickle cascade and then would result in pain as the sickle cells cause the microvascular occlusions. Get online assignment help – 100% Original & AI-Free Content.

Pathophysiology of SCD

As stated previously, SCD is a genetic recessive condition involving the hemoglobin molecule. "Sickle cell disease (SCD) is caused by a mutation in the gene that encodes the beta-globin chain of the hemoglobin molecule. This mutation results in the formation of sickle hemoglobin (HbS), which has the unique feature of polymerizing on deoxygenation.1 Because of a single base-pair point mutation (GAG to GTG) in the beta-globin gene, the amino acid glutamic acid (which is hydrophilic) is replaced by valine (which is hydrophobic) at position 6 of the beta-globin molecule, resulting in the formation of HbS" (Habet, n.d., section 8).

Disease and disease progression

In evaluating the blood work provided for this case study there are many things that are concerning related to sickle cell disease. The patient presents with decreased hemoglobin and hematocrit, significantly below normal levels. This can indicate that the patient has anemia and given the peripheral smear results it can be thought that the patient may be Sickle cell anemia which is the most severe form of SCD. He also has an elevated WBC count which may be indicative of an infection, which can be the stressor the body needs to start the sickle cell cascade that may result in the cause of the patient's pain. He also has an elevated bilirubin which can be indicative of liver damage. Also, the presence of Howell-Jolly bodies in the peripheral smear is indicative of splenic damage with SCD. With this information I would conclude that this patient has a severe form of SCD that has started to cause significant organ damage which means that the disease is progressing to cause irreversible damage to the patient's organs.