Neonatal haemolytic anaemia – a diagnostic approach to red cell membrane disorders
| Autor: | Swart, L, Schapkaitz, E, Poole, J, Coetzer, T L |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Zdroj: | South African Journal of Child Health; Vol 12, No 2 (2018); 81-83 |
| ISSN: | 1994-3032 1999-7671 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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