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

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...

Full description

Saved in:
Bibliographic Details
Published inSAJCH : the South African journal of child health Vol. 12; no. 2; pp. 81 - 83
Main Authors Poole, J., Naidoo, K., Schapkaitz, E., Swart, L., Coetzer, T.L.
Format Journal Article
LanguageEnglish
Portuguese
Published Health and Medical Publishing Group (HMPG) 01.06.2018
Health & Medical Publishing Group
Subjects
Care and treatment
Diagnosis
Health aspects
Health Care Sciences & Services
Hematologists
Hemolytic anemia
Newborn infants
Practice
Online AccessGet full text

Cover

More Information
Summary: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.
ISSN:1994-3032
1999-7671
1999-7671
DOI:10.7196/SAJCH.2018.v12i2.1483