It is an inherited blood disorder caused by a defective cell called the sickle cell gene.

Effect

  • It affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body.
  • People with this disease have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.

Symptoms

  • Early stage: Extreme tiredness or fussiness from anemia, painfully swollen hands and feet, and jaundice.
  • Later stage: Severe pain, anemia, organ damage, and infections.

Diagnosis

  • Solubility test / Dithionite test
  • Hemoglobin electrophoresis
  • HPLC (High-Performance Liquid Chromatography)
  • Genetic testing (for prenatal diagnosis)

Treatments

  • The only cure for this disease is bone marrow or stem cell transplantation.

 

Source: PIB

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