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[Sickle cell pathophysiology].

P Renaudier1

  • 1ARS Lorraine, 4, rue Piroux, CO 80071, 54036 Nancy cedex, France.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine
|October 6, 2014
PubMed
Summary

Sickle cell disease results from a single gene mutation, causing red blood cells to deform and block blood flow. This leads to painful vaso-occlusive crises and organ damage.

Keywords:
Blood transfusionDrépanocytoseHemovigilanceHémovigilancePathophysiologyPhysiopathologieSickle cell diseaseTransfusion

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Area of Science:

  • Molecular Biology
  • Genetics
  • Hematology

Context:

  • Sickle cell disease (SCD) is a genetic blood disorder.
  • It stems from a specific point mutation in the beta-globin gene.
  • This mutation alters the sixth amino acid of the hemoglobin protein.

Purpose:

  • To explain the molecular basis of sickle cell disease.
  • To detail the resulting structural changes in hemoglobin S (HbS).
  • To connect these changes to the clinical manifestations of SCD.

Summary:

  • A single base pair inversion (A=T to A=T) changes the sixth codon of the beta-globin gene from GAA to GTA.
  • This results in the substitution of glutamic acid (negatively charged) with valine (hydrophobic) at the sixth position of the beta-globin chain.
  • The hydrophobic valine creates an intermolecular binding site on deoxygenated HbS, leading to polymerization, red blood cell deformation, and vaso-occlusive events.

Impact:

  • Understanding the pathophysiology of SCD is crucial for developing targeted therapies.
  • The identified molecular mechanisms explain the cellular damage and clinical symptoms observed in patients.
  • Establishing a French network for SCD facilitates future multicenter clinical trials.