Diagnosis

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:

• (1) Sickle Cell Society 2008. Standards for the clinical care of adults with sickle cell disease in the UK