Prevalence

  1. Sickle cell disease is one of the most common inherited conditions of haemoglobin worldwide and is seen in many populations including people from Africa, the Middle East, Southern Europe, India, Pakistan, South America and the Caribbean.
  2. The WHO estimates that 1 in 500 African-American births and 1 in every 1,000 to 1,400 Hispanic-American births are affected by sickle cell disease, and that 1 in 12 African-American people carry the mutated sickle cell allele.
  3. In Australia, sickle cell disease has been most commonly seen in individuals of Southern European and Middle Eastern origin (especially Lebanese and Turkish). However, with increasing immigration from sub Saharan Africa and the Indian subcontinent , HbS is becoming more prevalent.
  4. Individuals who are carriers for sickle cell disease may be clinically and haematologically silent, with normal red cell indices.
  5. Individuals at increased risk of being a carrier for sickle cell also include those with a family history of sickle cell disease and/or sickle cell carrier state.
  6. Also see Prevalence of haemoglobinopathies in general.
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Investigations

  1. See Investigations of carriers for haemoglobinopathies in general
  2. FBE and ferritin tests generally do not show abnormalities.
  3. Haemoglobinopathy testing results are abnormal and indicate sickle cell disease (homozygosity) or sickle cell trait (heterozygosity – sickle cell disease carrier state)
  4. It is important to identify couples who are both carriers for sickle cell disease or other haemoglobin variants and/or thalassaemia in order to offer information about their risk of having a severely affected child and, where possible, prenatal diagnosis.
  5. The best time to identify carriers is prior to pregnancy.

 

Where the sickle cell carrier state is identified it is essential that the partner be investigated. Testing the partner is an urgent priority if the woman is already pregnant.

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Management

  1. Sickling of red blood cells can occur in any organ and affect its function.
  2. Individuals with symptoms of sickle cell crisis should be sent immediately to the emergency department
    of a hospital for administration of:
  3. IV fluids
  4. Pain relief
  5. Other treatment if indicated
  6. Patients should receive regular medical care from their GP.
  7. Women with sickle cell disease who are pregnant should be referred to a specialist centre for management.
  8. Carriers for sickle cell disease are healthy and are not affected by anaemia. In some very rare instances,
    (eg anaesthesia), the red blood cells of a carrier can undergo sickling. Anaesthetists should be informed
    when a patient is a carrier for sickle cell disease.
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