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Sickle Cell Disease: A Review.

Patricia L Kavanagh1, Titilope A Fasipe2, Ted Wun3

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|July 5, 2022
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Summary
This summary is machine-generated.

Sickle cell disease (SCD) is an inherited blood disorder affecting 100,000 Americans. New therapies offer improved management for SCD patients, complementing hydroxyurea and stem cell transplants.

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Area of Science:

  • Hematology
  • Genetics
  • Internal Medicine

Background:

  • Sickle cell disease (SCD) is an inherited hemoglobin disorder causing sickle-shaped red blood cells, leading to organ damage and increased mortality.
  • An estimated 300,000 infants are born with SCD annually worldwide, with a significant prevalence in sub-Saharan Africa, India, the Mediterranean, and the Middle East.

Purpose of the Study:

  • To review the current understanding of sickle cell disease (SCD) diagnosis, complications, and therapeutic advancements.
  • To highlight the evolving treatment landscape for SCD, including newly approved therapies and established interventions.

Main Methods:

  • Literature review of SCD diagnosis, clinical manifestations, and treatment outcomes.
  • Analysis of clinical trial data for novel SCD therapies (L-glutamine, crizanlizumab, voxelotor) and established treatments (hydroxyurea, hematopoietic stem cell transplant).

Main Results:

  • SCD is diagnosed via newborn screening or clinical presentation of anemia and pain.
  • Newer therapies like L-glutamine, crizanlizumab, and voxelotor have demonstrated efficacy in reducing hospitalizations, pain crises, and improving hemoglobin levels.
  • Hydroxyurea remains first-line therapy, while hematopoietic stem cell transplant offers a potential cure but is limited by donor availability.

Conclusions:

  • SCD significantly impacts lifespan and quality of life, necessitating comprehensive management strategies.
  • Recent therapeutic approvals have expanded treatment options, offering improved outcomes for individuals with SCD.
  • Hematopoietic stem cell transplant is the only curative option, underscoring the need for continued research into effective and accessible treatments.