Case Reports

Neonatal haemolytic anaemia – a diagnostic approach to red cell membrane disorders

L Swart, K Naidoo, E Schapkaitz, T L Coetzer, J Poole

Abstract


In neonates presenting with a non-immune haemolytic anaemia, a high index of suspicion is raised for hereditary red cell membrane disorders. The distinction between red cell membrane disorders, however, is often difficult in neonates in the absence of a complete family history. We describe a case of a 26-day-old female twin who presented with jaundice and severe haemolysis, which required multiple red cell transfusions. Laboratory investigations revealed a non-immune haemolysis. Red cell membrane extraction and sodium dodecyl sulphate-polyacrylamide gel electrophoresis analysis, including spectrin analysis, revealed the presence of mutant spectrin αI/74. A diagnosis of hereditary elliptocytosis with transient infantile poikilocytosis was favoured. On follow-up at 4 months, a decline in haemolysis was observed.


Authors' affiliations

L Swart, Department of Molecular Medicine and Haematology, National Health Laboratory Service, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

K Naidoo, Department of Molecular Medicine and Haematology, National Health Laboratory Service, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

E Schapkaitz, Department of Molecular Medicine and Haematology, National Health Laboratory Service, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

T L Coetzer, Department of Molecular Medicine and Haematology, National Health Laboratory Service, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

J Poole, Department of Paediatrics, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

Full Text

PDF (491KB)

Cite this article

South African Journal of Child Health 2018;12(2):81-83. DOI:10.7196/SAJCH.2018.v12i2.1483

Article History

Date submitted: 2018-06-26
Date published: 2018-06-26

Article Views

Abstract views: 2115
Full text views: 519

Comments on this article

*Read our policy for posting comments here