South African Journal of Child Health | |
Compound heterozygous sickle cell disease and β0-thalassaemia: An interesting case | |
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
【 预 览 】
Files | Size | Format | View |
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RO201912010160879ZK.pdf | 362KB | download |