n South African Medical Journal - Alpha-thalassaemia trait as a cause of unexplained microcytosis in a South African population : research

Volume 106, Issue 3
  • ISSN : 0256-9574
  • E-ISSN: 2078-5135



Red cell microcytosis is a common abnormality detected in a full blood count, which often prompts clinicians to investigate further for a cause. In the absence of iron deficiency and anaemia of chronic disease, the differential diagnosis includes β-thalassaemia trait and ί-thalassaemia trait.

We investigated the contribution of ί-thalassaemia trait in South African subjects with unexplained microcytosis. Iron studies, haemoglobin subfractionation and multiplex polymerase chain reaction (PCR) analysis for ί-globin gene deletions were performed on 97 controls and 86 patients.
After excluding iron deficiency, anaemia of chronic disease and β-thalassaemia trait, 78.0% of subjects with unexplained microcytosis were confirmed on PCR analysis to have ί-thalassaemia trait.
ί-thalassaemia trait accounts for the majority of unexplained microcytosis.

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