Patient is a 45 year old male presenting with acute onset of pain that began in his legs and has since spread to his lower back

Scenario: Patient is a 45 year old male presenting with acute onset of pain that began in his legs and has since spread to his lower back. The pain is rated 9/10 and described as deep, throbbing, and constant. He has had several similar episodes in the past year, usually following dehydration or infection. He denies trauma.

Lab Pt value Normal values

Hemaglobin 8.1 13.5-17.5

Hematocrit 24 38-50

RBC 2.9 4.7-6.1

WBC 13000 4000-11000

Reticulocyte count 8% 0.5-2.5%

Total bilirubin 3.5 0.2-1.2

LDH 520 140-280

Peripheral smear Presence of sickled cells,

target cells, Howell-Jolly

bodies

Questions –

• Which genetic mutations are commonly associated with the disease?

• Why is the patient presenting with the specific symptoms described?

• Discuss the pathophysiological mechanisms of the disease in detail.

• What do the blood test results tell us about the disease and disease progression?

Questions for response to other students –

Expand on one thing you learned from reading this post

Did you agree or disagree with the post

For this Discussion, you examine a case study and explain the disease that is suggested. You examine the symptoms reported and explain the cells that are involved and potential alterations and impacts. You must use current evidence-based resources (Primary and secondary) to support your initial posting and all responses to your colleagues. Post an explanation of the disease highlighted in the scenario you were provided. Include the following in your explanation:

Which genetic mutations are commonly associated with the disease?
Why is the patient presenting with the specific symptoms described?
Discuss the pathophysiological mechanisms of the disease in detail.
What do the blood test results tell us about the disease and disease progression?