Case Reports

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

Rose von Fintel, R Schwyzer, J Poole, N A 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.


Authors' affiliations

Rose von Fintel, Department of Paediatric Haematology/Oncology, Charlotte Maxeke Johannesburg Academic Hospital and Wits Donald Gordon Medical Centre, Johannesburg, South Africa

R Schwyzer, Department of Paediatric Haematology/Oncology, Charlotte Maxeke Johannesburg Academic Hospital and Wits Donald Gordon Medical Centre, Johannesburg, South Africa

J Poole, Department of Paediatric Haematology/Oncology, Charlotte Maxeke Johannesburg Academic Hospital and Wits Donald Gordon Medical Centre, Johannesburg, South Africa

N A Alli, Department of Haematology, School of Pathology, National Health Laboratory Service, University of Witwatersrand, Johannesburg, South Africa

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Keywords

Sickle cell; thalassaemia; haemoglobinopathy

Cite this article

South African Journal of Child Health 2013;7(2):70-73. DOI:10.7196/SAJCH.524

Article History

Date submitted: 2012-09-25
Date published: 2013-05-20

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