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Updated: Nov 22, 2025

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.

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  • 1Johns Hopkins University School of Medicine, Baltimore, Maryland (L.H.P., S.L.).

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Summary
This summary is machine-generated.

Sickle cell disease (SCD) management is evolving, with hydroxyurea as primary therapy and new treatments like bone marrow transplant and gene editing offering potential cures for this complex hemoglobinopathy.

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Area of Science:

  • Hematology
  • Genetics

Background:

  • Sickle cell disease (SCD) is a group of hemoglobinopathies caused by β-globin gene mutations, leading to hemoglobin S production.
  • SCD is linked to hemolytic anemia, chronic organ damage, and reduced lifespan.
  • A growing adult SCD population presents complex comorbidities and care challenges.

Purpose of the Study:

  • To review the diagnosis of sickle cell disease.
  • To outline common acute and chronic clinical manifestations.
  • To discuss best practices for managing sickle cell disease.

Main Methods:

  • Literature review of sickle cell disease diagnosis, manifestations, and management.
  • Analysis of current therapeutic approaches, including hydroxyurea, bone marrow transplant, and gene editing.

Main Results:

  • Hydroxyurea remains the primary therapy for sickle cell disease.
  • Advances in understanding pathophysiology have spurred novel treatment development.
  • Bone marrow transplant and gene editing show promise for curative outcomes in select patients.

Conclusions:

  • Effective management of sickle cell disease requires a comprehensive approach addressing diagnosis, manifestations, and evolving therapies.
  • The increasing adult SCD population necessitates specialized care and further research.
  • Emerging treatments offer hope for improved patient outcomes and potential cures.