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Updated: Aug 9, 2025
07:24
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
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[Sickle cell disease – clinical manifestations and diagnostics]
Erik Wilhelm Vinnes1, Paul Kjetel Soldal Lillemoen1, Olav Klingenberg2
1Avdeling for medisinsk biokjemi og farmakologi, Haukeland universitetssjukehus.
Summary
Sickle cell disease, a genetic blood disorder, presents with varied symptoms. As it becomes more prevalent in Northern Europe, Norwegian clinicians need awareness of its causes, effects, and diagnostic methods.
Area of Science:
- Hematology
- Genetics
- Clinical Medicine
Background:
- Sickle cell disease (SCD) is a group of inherited red blood cell disorders.
- Traditionally rare in Northern Europe, SCD is increasingly recognized due to demographic shifts.
- Norwegian clinicians must be aware of SCD's growing presence.
Approach:
- This clinical review provides an introduction to sickle cell disease.
- Focuses on the etiology, pathophysiology, and clinical manifestations of SCD.
- Details laboratory testing for establishing a diagnosis.
Key Points:
- Understanding the genetic basis and molecular mechanisms of sickle cell disease.
- Recognizing the diverse acute and chronic clinical symptoms associated with SCD.
- Familiarity with diagnostic laboratory tests for accurate identification of SCD.
Conclusions:
- Increased awareness and diagnostic capability for sickle cell disease are crucial for Norwegian healthcare.
- Clinicians should be prepared to encounter and manage sickle cell disease.
- Effective management relies on understanding the disease's multifaceted nature.
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