South African Journal of Child Health
versão On-line ISSN 1999-7671
versão impressa ISSN 1994-3032
VON FINTEL, R; SCHWYZER, R; POOLE, J e ALLI, N A. Compound heterozygous sickle cell disease and β0-thalassaemia: An interesting case. S. Afr. j. child health [online]. 2013, vol.7, n.2, pp.70-73. ISSN 1999-7671.
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 β0-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.