Compound heterozygous sickle cell disease and β0- thalassaemia: An interesting case

  • R von Fintel
  • R Schwyzer
  • J Poole
  • NA Alli

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 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.
Published
2013-07-03
Section
Articles

Journal Identifiers


eISSN: 1999-7671
print ISSN: 1994-3032