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

South African Journal of Child Health

J Poole¹  Rose von Fintel¹  R Schwyzer¹  N A Alli² 

[1] Department of Paediatric Haematology/Oncology, Charlotte Maxeke Johannesburg Academic Hospital and Wits Donald Gordon Medical Centre, Johannesburg, South Africa;Department of Haematology, School of Pathology, National Health Laboratory Service, University of Witwatersrand, Johannesburg, South Africa

关键词: Sickle cell;    thalassaemia;    haemoglobinopathy;   

DOI  :  

学科分类：农业科学（综合）

来源: Health and Medical Publishing Group

【 摘 要 】

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 0 -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.

【 授权许可】

Unknown