1887

n South African Journal of Child Health - Compound heterozygous sickle cell disease and β°-thalassaemia : an interesting case : case report

Volume 7, Issue 2
  • ISSN : 1994-3032
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Abstract

Haemoglobinopathies are a group of inherited disorders caused by structural variations of the haemoglobin molecule. We report the case of a 5-year-old girl suffering from chronic haemolytic anaemia. A diagnosis of compound heterozygous sickle cell disease (SCD) and β°-thalassaemia was established using haemoglobin sub-fractionation studies and parental screening. The latter revealed the father and mother to have heterozygous SCD and heterozygous β-thalassaemia, respectively. Evaluation of children with a haemolytic anaemia requires a thorough history and physical examination, appropriate laboratory testing and careful interpretation of the results.

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/content/m_sajch/7/2/EJC136637
2013-05-01
2016-12-09

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