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Diagnosis

Authoring team

Diagnosis is on the basis of:

  • history and examination
  • blood - shortened red cell survival results in:
  • low haemoglobin, usually around 8 or 9 g/dl
  • normochromic normocytic anaemia of moderate degree and sickle cells present
  • target cells and sickle cells on the blood film
  • the reticulocyte count is usually elevated to 10-20%
  • the use of laboratory investigations and confirmatory investigations depends on the mode of presentation and on available facilities, common methods used in the diagnosis include:
  • full blood count, blood film, reticulocyte count
  • sickle solubility test (e.g. – sickledex)
  • high performance liquid chromatography (HPLC)
  • isoelectric focusing (IEF)
  • cellulose acetate electrophoresis (CAE) (1)
  • prenatal diagnosis:
  • amniocentesis and chorionic villus sampling are employed
  • extracted DNA may be characterised by restriction fragment polymorphism analysis or Southern blotting with a mutation-specific oligonucleotide

Reference:


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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